'en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)'
(id=6946117 ; fe=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) ; type=1 ; niveau=200 ; luminosité=25 ; somme entrante=135293 creation date=2017-06-25 touchdate=2025-12-10 16:00:54.000)

≈ 6121 relations sortantes en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:affects 1 in 250,000 to 1 million people worldwide n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affects 1 in 250,000 to 1 million people worldwide | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:affects up to 10% of the population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affects up to 10% of the population | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:age of onset ranges from infancy to young adulthood (6 months-19 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:autosomal recessive inheritance has been reported (see 601253.0010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance has been reported (see 601253.0010) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:based on report of 1 consanguineous pakistani family (last curated may 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 consanguineous pakistani family (last curated may 2015) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:based on report of 2 consanguineous pakistani families (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 consanguineous pakistani families (last curated march 2016) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:based on report of 3 unrelated patients (last curated january 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 3 unrelated patients (last curated january 2016) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:blood glucose monitor with integrated lancing/blood sample n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:blood glucose monitor with integrated lancing/blood sample | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:carrier males are unaffected except for psychiatric/behavioral abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:de novo mutation (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:de novo mutation (in some patients) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:death in early infancy (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in early infancy (in some patients) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:distinct disorder from familial limb-girdle myasthenia (254200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from familial limb-girdle myasthenia (254200) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:early lethality in most cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early lethality in most cases | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:episodes last about 1.5 hours n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes last about 1.5 hours | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:episodic decompensation is usually triggered by illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodic decompensation is usually triggered by illness | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:favorable response to oral bile acid therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to oral bile acid therapy | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:female to male ratio ranges from 2:1 to 4:1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female to male ratio ranges from 2:1 to 4:1 | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:five unrelated patients have been reported (as of december 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five unrelated patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:genetic heterogeneity (see psnp2 609454) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see psnp2 609454) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:germline and somatic mutations contribute to this disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:germline and somatic mutations contribute to this disorder | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:heterozygous females more mildly affected than hemizygous males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous females more mildly affected than hemizygous males | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:keratitis-ichthyosis-deafness syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:keratitis-ichthyosis-deafness syndrome | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:many patients recover normally n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many patients recover normally | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:may be same entity as elejalde syndrome (256710) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be same entity as elejalde syndrome (256710) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:may be x-linked n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be x-linked | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:may result in early death from severe diarrhea n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may result in early death from severe diarrhea | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:mean age at onset of proximal muscle weakness, 31 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset of proximal muscle weakness, 31 years | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:more than half of patients develop retinal detachments and/or retinoschisis later in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more than half of patients develop retinal detachments and/or retinoschisis later in life | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:neurologic features have been diagnosed in ~30% of cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic features have been diagnosed in ~30% of cases | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:not all patients have a myopathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:not all patients have a myopathy | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:occasionally low-dose insulin required n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occasionally low-dose insulin required | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:one patient has been reported (as of july 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (as of july 2010) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:one turkish girl has been reported (last curated april 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one turkish girl has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:onset ages 2 to 14 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset ages 2 to 14 years | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:onset at 2 to 15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at 2 to 15 years | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:onset before age 40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before age 40 years | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:onset in early childhood (infancy to 6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early childhood (infancy to 6 years) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:onset in first and second decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first and second decades | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:onset in the second to fourth decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the second to fourth decades of life | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:onset of symptoms in second or third decade (mean 25 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in second or third decade (mean 25 years) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:onset usually in first to third decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in first to third decade of life | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:partial laminin alpha-2 deficiency results in milder phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:partial laminin alpha-2 deficiency results in milder phenotype | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:patients do not have ectopia lentis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients do not have ectopia lentis | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:presentation in childhood includes waddling gait and knee pain/stiffness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation in childhood includes waddling gait and knee pain/stiffness | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:results in severe motor disability and loss of independent ambulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:results in severe motor disability and loss of independent ambulation | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:seizures and dystonia peak during childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures and dystonia peak during childhood | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:seizures are poorly responsive to treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are poorly responsive to treatment | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:seizures are refractory to treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are refractory to treatment | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:some female patients can conceive after administration of gonadotropins n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some female patients can conceive after administration of gonadotropins | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:some patients do not develop stroke n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients do not develop stroke | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:symptoms usually last 30-60 minutes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms usually last 30-60 minutes | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:three patients reported, one with a wdpcp mutation (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:tumor suppressor genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tumor suppressor genes | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:two unrelated men have been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated men have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:typical onset in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:typical onset in adulthood | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:variable age of onset (childhood to young adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (childhood to young adulthood) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:variable age of onset (range 1-40 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (range 1-40 years) | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:variable severity and progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity and progression | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 43 / 1 -> en:vhl type 2b - renal carcinoma and pheochromocytoma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:vhl type 2b - renal carcinoma and pheochromocytoma | rel=r_associated | relid=0 | w=43 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:adult onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:all patients have duplication of at least the crebbp gene (600140) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all patients have duplication of at least the crebbp gene (600140) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:autonomic symptoms occur with headaches n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autonomic symptoms occur with headaches | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:based on 2 reported patients (last curated january 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 reported patients (last curated january 2013) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:based on report of 1 japanese family (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 japanese family (last curated november 2013) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:cardiomyopathy may develop later in the disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cardiomyopathy may develop later in the disease | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:caused by constitutive activation of the avpr2 receptor n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by constitutive activation of the avpr2 receptor | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:clinically mimics congenital torch infections (see 251290) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinically mimics congenital torch infections (see 251290) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:complete recovery upon treatment of hyperthyroidism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complete recovery upon treatment of hyperthyroidism | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:contiguous gene syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contiguous gene syndrome | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:death in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in early childhood | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:death may occur in childhood due to respiratory failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death may occur in childhood due to respiratory failure | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:death often in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often in early childhood | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:death within 12 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death within 12 months | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:described in families from galicia, spain n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:described in families from galicia, spain | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:epiphyseal stippling is gone by 8 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:epiphyseal stippling is gone by 8 months of age | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:eye and vestibular findings were found in some members of one family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:eye and vestibular findings were found in some members of one family | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:favorable response to high-dose steroids n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to high-dose steroids | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:feet are unaffected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:feet are unaffected | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:female carriers may have short stature and premature ovarian failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have short stature and premature ovarian failure | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:five patients reported (as of march 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five patients reported (as of march 2009) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:five unrelated patients have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:genetic heterogeneity (see 213300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 213300) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:genetic heterogeneity (x-linked form 305100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (x-linked form 305100) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:heterozygous female carriers may manifest symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous female carriers may manifest symptoms | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:highly variable dysmorphic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable dysmorphic features | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:incidence 1 in 300,000 in japan n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1 in 300,000 in japan | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:increased frequency in finland (incidence 1:60,000 finnish newborns) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:l-dopa-induced dyskinesias n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:l-dopa-induced dyskinesias | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:later onset (late childhood to young adult) has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset (late childhood to young adult) has been reported | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:left sided involvement occurs more frequently n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:left sided involvement occurs more frequently | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:lethal in first weeks of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lethal in first weeks of life | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:lymphedema that presents at puberty is called meige disease (153200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lymphedema that presents at puberty is called meige disease (153200) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:mild expression in heterozygous carriers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild expression in heterozygous carriers | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:miscellaneous n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:miscellaneous | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:nonprogressive in most patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonprogressive in most patients | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:one family has been reported with limited clinical information (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported with limited clinical information (last curated october 2014) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:onset between 2 to 20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 2 to 20 years | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:other tumors may also occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:other tumors may also occur | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:patients develop multiple tumors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients develop multiple tumors | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:patients with medication-resistant hypertension require bilateral adrenalectomy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with medication-resistant hypertension require bilateral adrenalectomy | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:plasma cholinesterase measurement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:plasma cholinesterase measurement | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:presence of additional features is variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presence of additional features is variable | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:prevalence 1 in 1,250 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence 1 in 1,250 | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:ptosis is usually presenting feature n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ptosis is usually presenting feature | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:risk haplotype found in dutch families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk haplotype found in dutch families | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:see also autosomal dominant hypophosphatemic rickets (193100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant hypophosphatemic rickets (193100) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:see also cmtx1 (302800) and cmtx2 (302801) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also cmtx1 (302800) and cmtx2 (302801) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:seizures are followed by drowsiness in most cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are followed by drowsiness in most cases | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:seizures may remit with age (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may remit with age (in some patients) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:severity of hematologic disorder decreases with advancing age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severity of hematologic disorder decreases with advancing age | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:skin lesions on back, face, nape of neck, and waist tend to be mild n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesions on back, face, nape of neck, and waist tend to be mild | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:some patients can attend special school n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients can attend special school | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:some patients have later onset of the disorder as young adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have later onset of the disorder as young adults | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:some patients may need surgery or renal transplant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may need surgery or renal transplant | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:some patients show delayed development from birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show delayed development from birth | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:spontaneous tumor regression may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneous tumor regression may occur | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:surviving infants develop severe nonbullous ichthyosiform erythroderma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:symptoms improve with age, resulting in woolly hair with almost normal hair density n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms improve with age, resulting in woolly hair with almost normal hair density | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:two unrelated patients have been reported (last curated june 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:variable response to acetylcholinesterase inhibitors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 42 / 0.977 -> en:wide range of onset from childhood to adult (10 to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wide range of onset from childhood to adult (10 to 50 years) | rel=r_associated | relid=0 | w=42 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:1 patient reported (last curated may 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:1 patient reported (last curated may 2012) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:acquired disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acquired disorder | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:age at menarche:time:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at menarche:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:age of onset 5 to 40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 5 to 40 years | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:age of onset from third to sixth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset from third to sixth decade of life | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:allelic to early-onset familial alzheimer disease (ad1, 104300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:alpha thalassemia-mental retardation syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:alpha thalassemia-mental retardation syndrome | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:ataxia is nonprogressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ataxia is nonprogressive | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:based on one pakistani family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one pakistani family (last curated august 2015) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:decrease in frequency and severity of episodes in young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:decrease in frequency and severity of episodes in young adulthood | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:described in individuals of jewish bukharian descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:described in individuals of jewish bukharian descent | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:early death in patients with cloverleaf skull n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death in patients with cloverleaf skull | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:early onset (average 1 year) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early onset (average 1 year) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:facial appearance becomes more apparent with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:facial appearance becomes more apparent with age | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:female carriers may have mild hearing impairment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have mild hearing impairment | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:genetic heterogeneity (see 604559) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 604559) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:heterozygous carriers have decreased blood pressure compared to the general population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous carriers have decreased blood pressure compared to the general population | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:highly variable organ involvement and severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable organ involvement and severity | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:homozygotes have earlier onset and a more severe disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:homozygotes have earlier onset and a more severe disorder | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:hyperkeratosis often present at birth but may appear later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hyperkeratosis often present at birth but may appear later | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:hyponatremia usually associated with gastroenteritis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hyponatremia usually associated with gastroenteritis | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:incidence 1/20,000-1/64,000 male births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1/20,000-1/64,000 male births | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:incidence of 1 in 3,500 boys n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 3,500 boys | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:increased risk of early death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased risk of early death | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:later onset of neurologic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset of neurologic features | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:mechanical ventilation may be required n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mechanical ventilation may be required | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:most patients lose ambulation 2 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients lose ambulation 2 years after onset | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:non-progressive or very slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:non-progressive or very slowly progressive | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:occurs in full-term infants n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in full-term infants | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:often refractory to medical therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often refractory to medical therapy | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:one family has been reported (last curated january 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:one family has been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated september 2015) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:one patient has been reported (last curated july 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:onset 5-30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 5-30 years | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:onset at age 10 to 14 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at age 10 to 14 years | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:onset in young adulthood or adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in young adulthood or adulthood | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:onset of disease before 7 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease before 7 years of age | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:onset of linear striations between 5 months and 6 years (only in affected females) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of linear striations between 5 months and 6 years (only in affected females) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:other muscle become involved about 5 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:other muscle become involved about 5 years after onset | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:patients with atypical form have milder disease, with onset in the first months of life and increased survival n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with atypical form have milder disease, with onset in the first months of life and increased survival | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:percentages based on review of 51 published cases (pmid 24891339) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:percentages based on review of 51 published cases (pmid 24891339) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:perinatal lethality n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:perinatal lethality | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:predominantly occurs in young males with high rate of atopic disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:predominantly occurs in young males with high rate of atopic disease | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:prelingual onset in males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prelingual onset in males | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:progressive renal disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive renal disorder | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:ratio female to male, 19:10 in index family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ratio female to male, 19:10 in index family | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:risk of affected offspring in maternal translocation carrier - 4-10% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk of affected offspring in maternal translocation carrier - 4-10% | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:see also the x-linked form (300291) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also the x-linked form (300291) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:short umbilical cord n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:short umbilical cord | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:somatic mosaicism has been observed in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:somatic mosaicism has been observed in some patients | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:some patients do not achieve independent ambulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients do not achieve independent ambulation | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:some patients do not have thin corpus callosum n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients do not have thin corpus callosum | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:some patients have cessation of seizures at a mean of 12 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have cessation of seizures at a mean of 12 years | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:two main phenotypes, severe and mild n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two main phenotypes, severe and mild | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:usually sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually sporadic | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:variable age at onset of seizures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset of seizures | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:variable response to acetazolamide and carbamazepine n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable response to acetazolamide and carbamazepine | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 41 / 0.953 -> en:variably expressivity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variably expressivity | rel=r_associated | relid=0 | w=41 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:adult onset (mean 60 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (mean 60 years) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:age of onset 5 to 22 years (mean 6.9) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 5 to 22 years (mean 6.9) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:average age at onset 18.6 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at onset 18.6 years | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:boys are more often affected than girls (3:2) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:boys are more often affected than girls (3:2) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:cardiac manifestations are often fatal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cardiac manifestations are often fatal | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:clinical overlap with dejerine-sottas syndrome (dss, 145900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:considered a myeloproliferative disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:considered a myeloproliferative disorder | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:death in infancy common for patients with the classic neonatal form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy common for patients with the classic neonatal form | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:death usually by age 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually by age 3 years | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:drug-induced dyskinesias occur in a subset of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:drug-induced dyskinesias occur in a subset of patients | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:estimated carrier frequency in charlevoix-saguenay region is 1/22 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:four sibs from the old order mennonite community has been reported (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four sibs from the old order mennonite community has been reported (last curated december 2015) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:highest incidence in men of european descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highest incidence in men of european descent | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:incidence 1 in 8,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1 in 8,000 live births | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:kid syndrome and hid syndrome are identical at the molecular level n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:kid syndrome and hid syndrome are identical at the molecular level | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:length of time post dose:time:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:length of time post dose:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:less than 50% penetrance in some families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:less than 50% penetrance in some families | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:male to female ratio 7:1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male to female ratio 7:1 | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:median age of onset of pigmentation - 8 years (range 1-15 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age of onset of pigmentation - 8 years (range 1-15 years) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:melnick-needles syndrome (mns, 309350) is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:multiple congenital anomalies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:multiple congenital anomalies | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:often results in death in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often results in death in childhood | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:one family (4 affected members) has been reported (last curated july 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family (4 affected members) has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:onset in late childhood or early teens n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late childhood or early teens | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:onset in teens or young adulthood (range 13 to 45 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in teens or young adulthood (range 13 to 45 years) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:onset in utero in severely affected patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in utero in severely affected patients | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:onset of joint pain in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of joint pain in childhood | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:overlapping clinical spectrum and allelic to masa syndrome (303350) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:patients with later onset do not have dysmorphic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with later onset do not have dysmorphic features | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:periventricular heterotopia (300049) is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:periventricular heterotopia (300049) is an allelic disorder | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:presentation in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation in early childhood | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:renal involvement and coloboma may not be present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:renal involvement and coloboma may not be present | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:see also peeling skin syndrome, acral type (609796) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also peeling skin syndrome, acral type (609796) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:seizure frequency decreases during early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizure frequency decreases during early childhood | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:seizures may be refractory to treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may be refractory to treatment | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:the most studied group is efe pygmies from ituri forest in northeast zaire n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the most studied group is efe pygmies from ituri forest in northeast zaire | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:trauma, anxiety, and/or stress can precipitate or aggravate edema n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:variable age of onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 40 / 0.93 -> en:variable phenotype (myotonia may or may not be present) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype (myotonia may or may not be present) | rel=r_associated | relid=0 | w=40 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:(3) adult nonnephropathic (219750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:(3) adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:a subset of patients improve with thiamine n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a subset of patients improve with thiamine | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:abnormal sensitivity to therapeutic radiation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:abnormal sensitivity to therapeutic radiation | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:age of onset 2-8 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 2-8 months | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:anemia, diabetes, and deafness often show onset at different ages n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anemia, diabetes, and deafness often show onset at different ages | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:autosomal dominant inheritance has been reported in a single family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal dominant inheritance has been reported in a single family | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:carcinomas tend to develop in mid or late adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carcinomas tend to develop in mid or late adulthood | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:death usually occurs by 12 months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually occurs by 12 months of life | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:diabetes and anemia respond to high doses of thiamine supplementation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diabetes and anemia respond to high doses of thiamine supplementation | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:end-stage renal failure in first or second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:end-stage renal failure in first or second decade | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:estimated carrier frequency 1/100 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated carrier frequency 1/100 | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:eye involvement begins at birth, neurologic involvement begins later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:eye involvement begins at birth, neurologic involvement begins later | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:five patients have been reported (as of 8/2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five patients have been reported (as of 8/2011) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:frequency and severity of seizures tends to decrease with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequency and severity of seizures tends to decrease with age | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:hand involvement improves with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hand involvement improves with age | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:hearing loss is congenital and nonprogressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss is congenital and nonprogressive | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:high incidence among ashkenazi jews n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high incidence among ashkenazi jews | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:increased frequency in ashkenazi jewish population and in finland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in ashkenazi jewish population and in finland | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:increased risk of myeloproliferative disorders in those with somatic mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased risk of myeloproliferative disorders in those with somatic mutations | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:intermediate levels of factor x in mildly symptomatic heterozygotes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intermediate levels of factor x in mildly symptomatic heterozygotes | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:joint replacement often necessary n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:joint replacement often necessary | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:late onset combined immunodeficiency with allelic variant 102700.0020 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late onset combined immunodeficiency with allelic variant 102700.0020 | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:liveborn often die within first week of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:liveborn often die within first week of life | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:majority of patients from italy and southwestern united states n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of patients from italy and southwestern united states | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:majority of wilms tumors are sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of wilms tumors are sporadic | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:male-to-female ratio, 1.8 to 1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male-to-female ratio, 1.8 to 1 | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:males more affected than females (2 to 2.5:1) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males more affected than females (2 to 2.5:1) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:most affected infants die shortly after birth from respiratory failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most affected infants die shortly after birth from respiratory failure | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:most common inherited ataxia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common inherited ataxia | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:nails may be intermittently involved n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nails may be intermittently involved | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:one canadian mennonite family has been reported (last curated november 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one canadian mennonite family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:onset between 7 and 27 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 7 and 27 years of age | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:onset between age 30-50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between age 30-50 years | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:onset in infancy or at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or at birth | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:onset is usually in childhood or adolescence (2 to 18 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset is usually in childhood or adolescence (2 to 18 years) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:onset may also occur in early infancy, adolescence, or adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset may also occur in early infancy, adolescence, or adulthood | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:onset often in late adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset often in late adolescence | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:onset within the first decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset within the first decade of life | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:prevalence in sardinia is 1 in 14,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence in sardinia is 1 in 14,000 | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:prevalence of 1 in 227 hopi indians n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 227 hopi indians | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:prevalent in bulgarian gypsies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent in bulgarian gypsies | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:see also a childhood-onset form (114100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also a childhood-onset form (114100) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:see also the non-herlitz type of jeb (226650), a less severe disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also the non-herlitz type of jeb (226650), a less severe disorder | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:seizures easily controlled by medications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures easily controlled by medications | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:skin erythroderma may resolve early, leaving atrophic lesions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin erythroderma may resolve early, leaving atrophic lesions | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:some patients may die from cardiomyopathy in the first or second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may die from cardiomyopathy in the first or second decade of life | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:some patients present with spasticity, whereas others present with cerebellar ataxia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients present with spasticity, whereas others present with cerebellar ataxia | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:spontaneous improvement or resolution of skin creases in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneous improvement or resolution of skin creases in childhood | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:spots occur in 95% of patients but can be absent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spots occur in 95% of patients but can be absent | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:three affected sibs have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three affected sibs have been reported | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:two unrelated families have been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:warm weather and alcohol are alleviating factors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:warm weather and alcohol are alleviating factors | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 39 / 0.907 -> en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | rel=r_associated | relid=0 | w=39 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:21 patients from 17 kindreds reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:21 patients from 17 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:accounts for 5-15% of childhood epilepsies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:accounts for 5-15% of childhood epilepsies | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:age at onset in males ranges from 3 to 7 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset in males ranges from 3 to 7 years | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:allelic disorder to type iv glycogen storage disease (232500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to type iv glycogen storage disease (232500) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:allelic to rett syndrome (312750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to rett syndrome (312750) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:allelic with smith-mccort dysplasia (607326) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic with smith-mccort dysplasia (607326) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:basal cell neoplasms develop after second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:basal cell neoplasms develop after second decade | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:based on 1 reported family (last curated december 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 reported family (last curated december 2013) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:based on one report of 3 consanguineous pakistani families (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one report of 3 consanguineous pakistani families (last curated august 2015) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:begins as focal dystonia, later becomes segmental or generalized n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:begins as focal dystonia, later becomes segmental or generalized | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:bone changes tend to develop after first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bone changes tend to develop after first decade | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:bone fragility is not apparent at birth, but becomes evident within several months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bone fragility is not apparent at birth, but becomes evident within several months of life | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:both homozygous and heterozygous mutations in lrsam1 have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both homozygous and heterozygous mutations in lrsam1 have been reported | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:clinical onset within first 2 years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical onset within first 2 years of life | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:clinical presentation varies from asymptomatic to fulminant course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical presentation varies from asymptomatic to fulminant course | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:death usually due to renal failure by average age 3 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually due to renal failure by average age 3 | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:despite voluminous steatorrhea, patients' growth and overall state of health is good n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:earlier onset is associated with more rapid progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:earlier onset is associated with more rapid progression | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:extracutaneous manifestations are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:extracutaneous manifestations are variable | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:four patients from 3 unrelated families have been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients from 3 unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:hair loss begins in first years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hair loss begins in first years of life | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:health insurance plan benefits comment:finding:point in time:^patient:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:highly variable phenotype, even within families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype, even within families | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:improvement of epimetaphyseal changes with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:improvement of epimetaphyseal changes with age | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:incidence worldwide of 1 in 30,000 to 50,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence worldwide of 1 in 30,000 to 50,000 | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:incomplete penetrance, some individuals have only emg changes without other clinical signs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:increased aneuploidy in offspring n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased aneuploidy in offspring | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:intrafamilial variability in nail changes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial variability in nail changes | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:lack of treatment results in early death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lack of treatment results in early death | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:loss of independent ambulation (in 2 of 3 patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:loss of independent ambulation (in 2 of 3 patients) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:may coexist with autoimmune vitiligo or thyroiditis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may coexist with autoimmune vitiligo or thyroiditis | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:mild phenotype onset - 11-18 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild phenotype onset - 11-18 months | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:neurologic signs are present in the neonatal period only n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic signs are present in the neonatal period only | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:no abnormalities of hair, teeth, or bones n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no abnormalities of hair, teeth, or bones | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:no peripheral signs of hypothyroidism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no peripheral signs of hypothyroidism | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:occurs at age 20-50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs at age 20-50 years | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:one family and 1 unrelated patient have been reported (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family and 1 unrelated patient have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:one family has been reported (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:one family of irish traveller descent described (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family of irish traveller descent described (last curated september 2013) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:one large consanguineous arab muslim family has been reported (as of september 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large consanguineous arab muslim family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:one patient has been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:one third of patients represent new mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one third of patients represent new mutations | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset 23 to 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 23 to 30 years | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset in first decade (birth to 6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade (birth to 6 years) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset in infancy after weaning from being breast-fed n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy after weaning from being breast-fed | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset in the neonatal period (0-38 days) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the neonatal period (0-38 days) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset of hematologic or cns tumors in the first or second decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hematologic or cns tumors in the first or second decades of life | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset of mental impairment in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of mental impairment in early childhood | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset of neurologic symptoms often by 30 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of neurologic symptoms often by 30 months | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset of parkinsonism in early twenties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of parkinsonism in early twenties | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset of seizures in later childhood (5 to 10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures in later childhood (5 to 10 years) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset of spasticity in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of spasticity in childhood | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset of symptoms at 2-4 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms at 2-4 months | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:onset often begins in childhood or adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset often begins in childhood or adolescence | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:patients may become totally dependent for all activities of daily living n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may become totally dependent for all activities of daily living | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:phenotypic overlap with desbuquois dysplasia (251450) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with desbuquois dysplasia (251450) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:presents at 2 to 3 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presents at 2 to 3 months of age | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:progressive disease is seen in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive disease is seen in some patients | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:rapidly progressive deterioration (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapidly progressive deterioration (in some patients) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:seizures are usually intractable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are usually intractable | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:some affected individuals have normal subsequent development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some affected individuals have normal subsequent development | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:some patients acquire late ambulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients acquire late ambulation | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:symptoms noted at 2-3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms noted at 2-3 years | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:two forms: iia (severe) and iib (mild) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two forms: iia (severe) and iib (mild) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014) | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:variable infectious phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable infectious phenotype | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 38 / 0.884 -> en:wide phenotypic variation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wide phenotypic variation | rel=r_associated | relid=0 | w=38 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:affected individuals may have biallelic or heterozygous mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals may have biallelic or heterozygous mutations | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:age of onset 28 to 70 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 28 to 70 years | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:allelic disorder to adult polyglucosan body disease (263570) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to adult polyglucosan body disease (263570) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:allelic disorder to paramyotonia congenita (168300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to paramyotonia congenita (168300) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:an autosomal recessive form has been reported (269720) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:an autosomal recessive form has been reported (269720) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:based on one report of a 4-generation family with 4 affected males and 6 affected females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one report of a 4-generation family with 4 affected males and 6 affected females | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:carrier frequency 1:1,000 in french-canadians in quebec n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier frequency 1:1,000 in french-canadians in quebec | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:d-hus is usually familial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:d-hus is usually familial | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:de novo mutations occur almost exclusively on the paternally derived x chromosome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:death between 2 years of age and young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death between 2 years of age and young adulthood | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:death in infancy secondary to kernicterus n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy secondary to kernicterus | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:described in families from western japan n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:described in families from western japan | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:dyskinesia may be precipitated by alcohol, stress, or fatigue n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:episodic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodic | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:favorable response to acetylcholinesterase inhibitors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:favorable response to corticosteroid treatment (1 family) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to corticosteroid treatment (1 family) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:favorable response to immunotherapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to immunotherapy | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:four unrelated patients have been reported (last curated june 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated patients have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:frequently death in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequently death in infancy | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:hhs is a more severe variant, often resulting in death in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hhs is a more severe variant, often resulting in death in childhood | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:incidence of 1 in 100,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 100,000 births | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:increased frequency among jewish iranian individuals from isfahan n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency among jewish iranian individuals from isfahan | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:loss of independent ambulation due to muscle weakness in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:loss of independent ambulation due to muscle weakness in adulthood | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:mean age at onset is 10.4 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset is 10.4 years | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:more common in females (male:female ratio 4:1) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more common in females (male:female ratio 4:1) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:no increased fragility of hair n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no increased fragility of hair | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:one japanese family has been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one japanese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:one korean family has been reported (as of november 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one korean family has been reported (as of november 2011) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:one lebanese family has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one lebanese family has been reported | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:one patient showed improvement and was thriving at 46 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient showed improvement and was thriving at 46 months of age | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:one patient with normal cognition has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with normal cognition has been reported | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:onset 14 months to 4 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 14 months to 4 years of age | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:onset in first decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade of life | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:onset ranges from early childhood to adulthood (usually before age 15) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset ranges from early childhood to adulthood (usually before age 15) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:patients with mutation in the nhlrc1 gene have slightly longer survival n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with mutation in the nhlrc1 gene have slightly longer survival | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:poor response to g-csf treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poor response to g-csf treatment | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:presents at a later age than sporadic wilms tumor n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presents at a later age than sporadic wilms tumor | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:prevalence in finland is 1 in 25,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence in finland is 1 in 25,000 | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:prognosis good n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prognosis good | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:progressive disorder that may become stable in young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive disorder that may become stable in young adulthood | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:rapidly progressive to persistent vegetative state or death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapidly progressive to persistent vegetative state or death | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:responsive to treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:responsive to treatment | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:secondary prevention, avoid smoking, alcohol, and oxidants n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:secondary prevention, avoid smoking, alcohol, and oxidants | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:see also dominant deb (131750), an allelic disorder with a less severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:skeletal features are variably present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skeletal features are variably present | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:some patients have lethal fetal akinesia with death in utero n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have lethal fetal akinesia with death in utero | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:some patients have subclinical exocrine pancreatic deficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have subclinical exocrine pancreatic deficiency | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:some patients may have normal psychomotor development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may have normal psychomotor development | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:some patients may not present until adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may not present until adulthood | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:some patients may show a favorable response to oral coenzyme q10 supplementation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may show a favorable response to oral coenzyme q10 supplementation | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:symptoms may be precipitated by infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms may be precipitated by infection | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:the characteristic changes in the spine resolve by adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the characteristic changes in the spine resolve by adolescence | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:two unrelated girls reported (last curated october 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated girls reported (last curated october 2013) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:two unrelated patients have been reported (last curated august 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:two unrelated patients have been reported (last curated december 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:variable age at onset (childhood to adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (childhood to adulthood) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:variable age at onset, most often in second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, most often in second decade | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:variable age of onset, from 6 to 50 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset, from 6 to 50 years of age | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:variable severity (mild symptoms to severe handicap) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity (mild symptoms to severe handicap) | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:very rare n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:very rare | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 37 / 0.86 -> en:virtually all patients are female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:virtually all patients are female | rel=r_associated | relid=0 | w=37 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:20% die before age one (usually secondary to renal or laryngeal defects) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:20% die before age one (usually secondary to renal or laryngeal defects) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:46,xy carriers are unaffected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:46,xy carriers are unaffected | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:adult-onset (range early twenties to forties) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult-onset (range early twenties to forties) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:age of onset 5 to 19 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 5 to 19 years | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:attacks typically last for minutes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks typically last for minutes | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:chromosomal hypersensitivity to ionizing radiation and alkylating agents n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:chromosome rearrangements have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:chromosome rearrangements have been reported | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:chronic, relapsing condition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:chronic, relapsing condition | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:complete penetrance but extreme variability of phenotypic expression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complete penetrance but extreme variability of phenotypic expression | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:death often in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often in childhood | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:early death due to sepsis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death due to sepsis | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:early death without kidney transplant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death without kidney transplant | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:favorable response to bh4 therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to bh4 therapy | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:favorable response to hydroxychloroquine treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to hydroxychloroquine treatment | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:four patients from 3 unrelated families have been reported (last curated july 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients from 3 unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see 607634) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 607634) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see hcfp2, 604185) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see hcfp2, 604185) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:genetic heterogeneity (see rmd1, 600332) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see rmd1, 600332) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:headache duration 4-72 hours n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:headache duration 4-72 hours | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:hearing impairment may improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing impairment may improve with age | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:high incidence in iraqis and sephardic jewish individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high incidence in iraqis and sephardic jewish individuals | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:infantile onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infantile onset | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:length of calorie fast:time:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:length of calorie fast:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:mean age of diagnosis is 40 years (range 11 to 79 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of diagnosis is 40 years (range 11 to 79 years) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:most common cancer in men aged 15-40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common cancer in men aged 15-40 years | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:most common mutation is leu276ile (606596.0004) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common mutation is leu276ile (606596.0004) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:most severe form of gaucher disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most severe form of gaucher disease | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:onset 0-12 hours after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 0-12 hours after birth | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:onset between 13 to 37 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 13 to 37 years | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:onset in childhood or young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or young adulthood | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:onset in fifties or sixties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in fifties or sixties | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:onset in infancy or in the first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or in the first months of life | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:onset of hearing loss in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss in adolescence | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:onset of visual loss in the first or second decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of visual loss in the first or second decades | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:prevalent in ashkenazi jews n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent in ashkenazi jews | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:reduced penetrance (89%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced penetrance (89%) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:retinal holes were present in an asymptomatic female carrier n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:retinal holes were present in an asymptomatic female carrier | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:severe neurodegenerative course resulting in a comatose state or death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe neurodegenerative course resulting in a comatose state or death | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:skin changes have onset in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin changes have onset in childhood | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:some heterozygotes may have increased urinary excretion of cystine and may develop stones n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:symptoms begin focally, later segmental or generalized n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms begin focally, later segmental or generalized | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:twinning due to superfetation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:twinning due to superfetation | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:two patients have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients have been reported | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:two unrelated families have been reported (last curated january 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:variable age at onset (8 to 62 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (8 to 62 years) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:variable age at onset (range 8 to 60 years, mean 32) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 8 to 60 years, mean 32) | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:vhl type 2a - hemangioblastoma and pheochromocytoma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:vhl type 2a - hemangioblastoma and pheochromocytoma | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 36 / 0.837 -> en:wheelchair use by 10-30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wheelchair use by 10-30 years | rel=r_associated | relid=0 | w=36 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:1 in 19,000 in japan n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:1 in 19,000 in japan | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:1 in 50,000 in korea n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:1 in 50,000 in korea | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:12% due to epimutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:12% due to epimutation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:14% of patients survive with polyhydramnios n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:14% of patients survive with polyhydramnios | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:7 unrelated patients have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:7 unrelated patients have been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:70% due to de novo maternal deletion of 15q11.2-q13 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:70% due to de novo maternal deletion of 15q11.2-q13 | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:98% of finnish cases due to one mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:98% of finnish cases due to one mutation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:abnormal morphogenesis of first and second branchial arches n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:abnormal morphogenesis of first and second branchial arches | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:about half of individuals are asymptomatic and identified by newborn screening programs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about half of individuals are asymptomatic and identified by newborn screening programs | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:about half of patients become wheelchair bound after long duration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about half of patients become wheelchair bound after long duration | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:absence seizures usually remit by puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:absence seizures usually remit by puberty | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:accounts for 1-2% of lymphomas in adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:accounts for 1-2% of lymphomas in adults | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:acute neurologic deterioration after viral illness has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acute neurologic deterioration after viral illness has been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:additional developmental abnormalities may be seen in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:additional developmental abnormalities may be seen in some patients | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:adult onset (20 to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (20 to 50 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:adult onset (range 45 to 70 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (range 45 to 70 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:adult onset (sixth decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (sixth decade) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:adult onset (thirties to forties) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (thirties to forties) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:adult onset after puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset after puberty | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:affected females are infertile n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected females are infertile | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:affected individuals die soon after birth due to respiratory failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals die soon after birth due to respiratory failure | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:affected individuals have amnesia for events n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals have amnesia for events | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:affected individuals may have learning or behavioral problems during the period when seizures occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals may have learning or behavioral problems during the period when seizures occur | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:affected males are somatic mosaic for mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected males are somatic mosaic for mutations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:affected males who survive are secondary to new mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected males who survive are secondary to new mutations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age at onset from 3 to 51 years (mean 19.2 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset from 3 to 51 years (mean 19.2 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age of onset 30 to 60 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 30 to 60 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age of onset 6-12 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 6-12 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age of onset between 6 and 45 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset between 6 and 45 years of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age of onset from 18 to 45 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset from 18 to 45 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age of onset of distal lower limb weakness 8-16 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset of distal lower limb weakness 8-16 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age of onset of upper limb involvement 10-43 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset of upper limb involvement 10-43 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age of onset usually 1 week to 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset usually 1 week to 2 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:age of onset within the first years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset within the first years of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:all de novo mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all de novo mutations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:all reported cases have resulted from de novo mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all reported cases have resulted from de novo mutations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to autosomal dominant spg13 (605280) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to autosomal dominant spg13 (605280) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to nieman-pick disease type b (607616) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to nieman-pick disease type b (607616) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic disorder to stickler syndrome 3 (184840) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to stickler syndrome 3 (184840) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205). n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205). | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic to brachydactyly, type a1 (112500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to brachydactyly, type a1 (112500) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic to dyggve-melchior-clausen disease (223800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic to mucopolysaccharidosis ivb n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to mucopolysaccharidosis ivb | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:allelic to myosin storage myopathy (608358) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to myosin storage myopathy (608358) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:ambulation usually not achieved n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ambulation usually not achieved | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:amelioration with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:amelioration with age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:associated with advanced paternal age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with advanced paternal age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:associated with fragile x syndrome (300624) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with fragile x syndrome (300624) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:associated with increasing age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with increasing age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:associated with myoclonic epilepsy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with myoclonic epilepsy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:associated with tuberous sclerosis (191100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with tuberous sclerosis (191100) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:association of cardiac events with exercise n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:association of cardiac events with exercise | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:attacks are not responsive to acetazolamide n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks are not responsive to acetazolamide | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:attacks more common in women n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks more common in women | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:attacks rarely occur before puberty (hcp) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks rarely occur before puberty (hcp) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:autoimmune features are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autoimmune features are variable | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:autosomal dominant inheritance has been rarely reported (187800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal dominant inheritance has been rarely reported (187800) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:autosomal recessive inheritance has been suggested n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance has been suggested | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:average age at onset between 40 and 50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at onset between 40 and 50 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:average age of onset 13 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age of onset 13 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on 2 siblings in a consanguineous family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 siblings in a consanguineous family (last curated august 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on 2 unrelated chinese families (last curated july 2014). n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 unrelated chinese families (last curated july 2014). | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on 4 patients in one family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 4 patients in one family | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on one report of brother and sister n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one report of brother and sister | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on report of 1 family (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 family (last curated december 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on report of 1 large 6-generation family (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 large 6-generation family (last curated july 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on report of 2 consanguineous arab families (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 consanguineous arab families (last curated november 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on report of 2 individuals (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 individuals (last curated november 2013) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on report of 3 patients from 2 families (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 3 patients from 2 families (last curated march 2016) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on report of one 5-generation family (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of one 5-generation family (last curated december 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on the report of 1 consanguineous arab family (last curated january 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on the report of 1 consanguineous arab family (last curated january 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:based on the report of one consanguineous pakistani family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on the report of one consanguineous pakistani family (last curated august 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:bilateral involvement in 10% of cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bilateral involvement in 10% of cases | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:birth rate of 7.6 per 1,000,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:birth rate of 7.6 per 1,000,000 | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:blistering may worsen during the summer n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:blistering may worsen during the summer | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:blisters are precipitated by minor skin trauma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:blisters are precipitated by minor skin trauma | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:both autosomal dominant and recessive inheritance can occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both autosomal dominant and recessive inheritance can occur | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:both recessive and dominant inheritance have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both recessive and dominant inheritance have been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:brain mri abnormalities show improvement with time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:brain mri abnormalities show improvement with time | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:can be asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:can be asymptomatic | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:cardiac involvement occurs between 5 and 12 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cardiac involvement occurs between 5 and 12 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:carrier females show no clinical phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females show no clinical phenotype | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:carrier frequency 1:200,000 in france n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier frequency 1:200,000 in france | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:carrier mothers have urine biochemistry profiles identical to those of their sons n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier mothers have urine biochemistry profiles identical to those of their sons | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:cases reported in the old order amish and one japanese family (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cases reported in the old order amish and one japanese family (last curated april 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:cataracts present at birth or develop in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cataracts present at birth or develop in infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:cells of origin are part of the diffuse neuroendocrine system (dnes) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:chronic course with exacerbations and remissions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:chronic course with exacerbations and remissions | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:common (up to 7% of the population) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:common (up to 7% of the population) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:complete manifestation in males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complete manifestation in males | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:complicated and pure forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complicated and pure forms | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:conduction defect is progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:conduction defect is progressive | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:congenital disorders n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital disorders | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:congenital onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital onset | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:considered to be a manifestation of the caudal regression syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:considered to be a manifestation of the caudal regression syndrome | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:contiguous gene deletion syndrome (in most patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contiguous gene deletion syndrome (in most patients) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:date of analysis:tmstp:pt:xxx:qn n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:date of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death before age 15 in iia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death before age 15 in iia | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death due to rapidly progressive pulmonary fibrosis in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death due to rapidly progressive pulmonary fibrosis in infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death in childhood may occur due to infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in childhood may occur due to infection | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death in early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in early infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death in first-second decade of life secondary to cardio-respiratory compromise n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in first-second decade of life secondary to cardio-respiratory compromise | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death in neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in neonatal period | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death in utero n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in utero | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death in utero (30%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in utero (30%) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death may occur in early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death may occur in early infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death occurs before 12 months of age due to cardiorespiratory arrest n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death occurs before 12 months of age due to cardiorespiratory arrest | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death usually in sixth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in sixth decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death usually occurs in infancy or childhood if untreated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually occurs in infancy or childhood if untreated | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death usually within first 2 years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually within first 2 years of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death within first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death within first decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:death within first months or years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death within first months or years of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:decreased bilirubin concentration with phenobarbital administration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:decreased bilirubin concentration with phenobarbital administration | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:decreased fertility n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:decreased fertility | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:deletion sizes range from 287kb to 4.4mb n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:deletion sizes range from 287kb to 4.4mb | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:diabetes status:prid:pt:^patient:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diabetes status:prid:pt:^patient:nom | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:dip is a pathologic diagnosis that may represent other disease entities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dip is a pathologic diagnosis that may represent other disease entities | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:disability by end of first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disability by end of first decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:distinct from pili annulati (180600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct from pili annulati (180600) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:does not result in renal failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:does not result in renal failure | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:dysmorphic features were only reported in 1 patient n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dysmorphic features were only reported in 1 patient | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:early adult onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early adult onset has been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:early death may occur from cardiogenic shock preceded by arrhythmia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death may occur from cardiogenic shock preceded by arrhythmia | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:early diagnosis and treatment prevent many complications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early diagnosis and treatment prevent many complications | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:early lethality n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early lethality | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:end-stage renal failure may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:end-stage renal failure may occur | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:epilepsy with grand mal seizures on awakening (egma, 607628) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:epilepsy with grand mal seizures on awakening (egma, 607628) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:episodes occur 30 minutes to 3 hours after exposure to cold n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes occur 30 minutes to 3 hours after exposure to cold | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:episodic metabolic decompensation usually associated with illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodic metabolic decompensation usually associated with illness | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:estimated gene carrier frequency of 1 in 5,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated gene carrier frequency of 1 in 5,000 | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:estimated population frequency of 1 in 13,000-20,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated population frequency of 1 in 13,000-20,000 | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:existence as a distinct entity is not confirmed n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:existence as a distinct entity is not confirmed | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:extreme sensitivity to chemotherapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:extreme sensitivity to chemotherapy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:familial cases are rare and show incomplete penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:familial cases are rare and show incomplete penetrance | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:family a had a severe multisystem disorder resulting in death before age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:family a had a severe multisystem disorder resulting in death before age 2 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:family b had a milder phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:family b had a milder phenotype | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:fatal without bone marrow transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatal without bone marrow transplantation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:favorable response to ursodeoxycholic acid treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to ursodeoxycholic acid treatment | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:features in addition to mental retardation are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features in addition to mental retardation are variable | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:female carriers may develop mild hearing loss as adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may develop mild hearing loss as adults | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:female carriers may have subtle manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have subtle manifestations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:females demonstrate lyonization with corresponding phenotypic variation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:females demonstrate lyonization with corresponding phenotypic variation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:fetal death usually occurs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fetal death usually occurs | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:five patients have been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five patients have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:food intolerance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:food intolerance | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:founder effect in turkish families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:founder effect in turkish families | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:four major groups: early infantile, late infantile, juvenile, adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four major groups: early infantile, late infantile, juvenile, adult | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:frequency increases with advancing age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequency increases with advancing age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:gastrointestinal anomalies are not always present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gastrointestinal anomalies are not always present | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:generalized fatigue n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:generalized fatigue | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:generally benign disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:generally benign disorder | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:generally static disease course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:generally static disease course | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic anticipation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic anticipation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see bafme2, 607876) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see bafme2, 607876) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see cmt2a 118210) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cmt2a 118210) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see mada, 248370) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see mada, 248370) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see npc2, 607625) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see npc2, 607625) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see rls2, 608831) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see rls2, 608831) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see sca1, 164000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see sca1, 164000) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see, e.g., atfb3, 607554) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see, e.g., atfb3, 607554) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genetic heterogeneity (sli2 606712, sli3 607134) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:genomic duplications occur de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genomic duplications occur de novo | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:good response to clonazepam n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to clonazepam | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:good response to fibrinolytic inhibitors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to fibrinolytic inhibitors | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:hands clenched at birth but loosen in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hands clenched at birth but loosen in infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:has been described in patients of caucasus jewish origin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:has been described in patients of caucasus jewish origin | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:headaches last hours to days n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:headaches last hours to days | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:hearing loss is progressive and initially affects high-frequencies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss is progressive and initially affects high-frequencies | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:hearing loss occurs later if at all n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss occurs later if at all | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:hemolysis may be exercise-induced n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hemolysis may be exercise-induced | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:heterozygotes have mild, transient hypothyroidism in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes have mild, transient hypothyroidism in infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:heterozygous mutation carriers may show mild symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous mutation carriers may show mild symptoms | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:high disease prevalence among french-canadians n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high disease prevalence among french-canadians | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:high frequency among french-canadians n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency among french-canadians | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:high frequency hearing loss progresses to include all frequencies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency hearing loss progresses to include all frequencies | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:high frequency in southern india (7% of all epilepsies) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency in southern india (7% of all epilepsies) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:high infant mortality due to malnutrition as well as complications of parenteral nutrition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high infant mortality due to malnutrition as well as complications of parenteral nutrition | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:highly variable phenotype and severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype and severity | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:improvement of abnormal muscle biopsy and cox deficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:improvement of abnormal muscle biopsy and cox deficiency | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:in severe attacks, hemiplegia or coma may last days to weeks n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in severe attacks, hemiplegia or coma may last days to weeks | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:incidence 5-50 per million (children) and 10-40 per million (adults) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 5-50 per million (children) and 10-40 per million (adults) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:incidence in the finnish population of 0.2-1.3 cases per million per year n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence in the finnish population of 0.2-1.3 cases per million per year | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:incidence in united states of 1 in 55,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence in united states of 1 in 55,000 | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:incidence of 1 in 250,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:incidence of 1% in yarmouth county, nova scotia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:incomplete penetrance (as low as 30% in some cases) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance (as low as 30% in some cases) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:incompletely penetrant phenotype in heterozygotes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incompletely penetrant phenotype in heterozygotes | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:increased frequency among individuals of ashkenazi jewish descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency among individuals of ashkenazi jewish descent | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:increased risk of developing early-onset aggressive cancers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased risk of developing early-onset aggressive cancers | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:infantile onset (in 1 patient) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infantile onset (in 1 patient) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:infants are stillborn or die before age 1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infants are stillborn or die before age 1 | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:infants occasionally mistaken as having down syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infants occasionally mistaken as having down syndrome | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:inflammatory arthritis may develop in 30% of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:inflammatory arthritis may develop in 30% of patients | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:inheritance may be x-linked dominant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:inheritance may be x-linked dominant | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:intermediate expression in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intermediate expression in females | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:intermittent pyrexia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intermittent pyrexia | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:intrafamilial variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial variability | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:late-onset, slowly progressing form of retinitis pigmentosa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late-onset, slowly progressing form of retinitis pigmentosa | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:later childhood onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later childhood onset has been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:later onset may occur (1 to 11 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset may occur (1 to 11 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:levodopa-induced dyskinesias n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:lifetime risk of breast cancer in mutation carriers is 80 to 90% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:limited clinical information provided on patients with bbs7 mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limited clinical information provided on patients with bbs7 mutations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:linked to 10q24 trisomy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:linked to 10q24 trisomy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:lipodystrophic appearance may be mild or not present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lipodystrophic appearance may be mild or not present | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:liver involvement can range from mild to severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:liver involvement can range from mild to severe | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:long headache duration (greater than 12 hours) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:long headache duration (greater than 12 hours) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:loss of independent ambulation in the second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:loss of independent ambulation in the second decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:low physical performance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:low physical performance | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:lymphedema occurs in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lymphedema occurs in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:major cause of death is heart failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:major cause of death is heart failure | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:majority are sporadic cases, affected sibs have been described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority are sporadic cases, affected sibs have been described | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:majority of cases are secondary to de novo mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases are secondary to de novo mutation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:majority of cases have been sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases have been sporadic | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:majority of eec cases appear to be secondary to tp63 (603273) mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:males carry mutations in the somatic mosaic state n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males carry mutations in the somatic mosaic state | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:males more frequently have severe lesions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males more frequently have severe lesions | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:many adults with typical form remain ambulatory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many adults with typical form remain ambulatory | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:marked heterogeneity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked heterogeneity | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:may be fatal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be fatal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:may be present in asymptomatic adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be present in asymptomatic adults | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:may not be clinically manifest until middle life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may not be clinically manifest until middle life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mean age at diagnosis 8.8 years (range 0.2-23 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mean age at onset 10.6 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 10.6 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mean age at onset 22 years (range 7 to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 22 years (range 7 to 50 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mean age at onset of muscle disease is 42 years (range 24-61) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset of muscle disease is 42 years (range 24-61) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mean age of onset 18 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 18 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mean age of onset 30 years (range first to seventh decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 30 years (range first to seventh decade) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mean age of onset, 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset, 5 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:median age at diagnosis, 59 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age at diagnosis, 59 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:median life expectancy, 13.4 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median life expectancy, 13.4 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:metabolic decompensation, episodic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:metabolic decompensation, episodic | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:metabolic rate^resting:engrat:pt:^patient:qn n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:metabolic rate^resting:engrat:pt:^patient:qn | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mortality, premature n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mortality, premature | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most cases are isolated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases are isolated | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most cases occur de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases occur de novo | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most common form of bowel obstruction in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common form of bowel obstruction in infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most common form of inherited, congenital hydrocephalus n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common form of inherited, congenital hydrocephalus | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most common inherited giant platelet disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common inherited giant platelet disorder | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most common muscle disease of older persons n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common muscle disease of older persons | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most common subtype of frontotemporal dementia (600274) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common subtype of frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most have onset in first or second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most have onset in first or second decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most patients appear unaffected in the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients appear unaffected in the first year of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most patients die from heart failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die from heart failure | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most patients die in first years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die in first years of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most patients die in the first days of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die in the first days of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most patients have severe streptococcus pneumoniae infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients have severe streptococcus pneumoniae infections | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:most patients retain ambulation with aids n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients retain ambulation with aids | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:motor delay n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:motor delay | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:multiple prenatal fractures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:multiple prenatal fractures | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mutation in rp9 gene in family (607331.0001) likely not pathogenic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:nails appear normal at birth, with dystrophic changes developing within the first decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:neonatal sepsis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal sepsis | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:neuromuscular, cardiovascular, and infectious symptoms improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:nine patients have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nine patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:no consistent dysmorphic facial phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:no dysmorphic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no dysmorphic features | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:no preceding skin inflammatory stage n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no preceding skin inflammatory stage | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:no predisposition to skin tumor development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no predisposition to skin tumor development | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:no response or worsening with acetylcholinesterase inhibitors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no response or worsening with acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:normal alleles contain 15 to 50 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal alleles contain 15 to 50 repeats | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:normal at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal at birth | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:normal development until onset of seizures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal development until onset of seizures | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:normal sweat electrolytes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal sweat electrolytes | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:not all patients have all features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:not all patients have all features | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:occurs most often between 5 and 15 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs most often between 5 and 15 years of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:often identified in newborn period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often identified in newborn period | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one 4-generation chinese family has been reported (as of 04/2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one 4-generation chinese family has been reported (as of 04/2010) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one brazilian family with 12 affected individuals reported (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one consanguineous arab family has been reported (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous arab family has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one consanguineous italian family has been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous italian family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one consanguineous moroccan family has been reported (as of january 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous moroccan family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one consanguineous pakistani family reported (last curated august 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family reported (last curated august 2013) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one consanguineous senegalese family has been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous senegalese family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one consanguineous tunisian family has been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous tunisian family has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one consanguineous turkish family has been reported (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous turkish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family and 2 unrelated patients have been reported (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family and 2 unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family described (last curated october 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family described (last curated october 2013) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family from the old order amish has been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family from the old order amish has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family has been described (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family has been reported (as of curation date may, 2013) onset in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of curation date may, 2013) onset in infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family has been reported and no additional clinical features were provided (last curated june 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family of italian-american descent has been described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family of italian-american descent has been described | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family reported (last curated july 2008) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported (last curated july 2008) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family with 3 affected individuals has been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 3 affected individuals has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family with 6 probands described (as of september 2000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 6 probands described (as of september 2000) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one family with autosomal dominant inheritance had only progressive bone marrow failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with autosomal dominant inheritance had only progressive bone marrow failure | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one likely consanguineous turkish family has been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one likely consanguineous turkish family has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated january 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated january 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one patient has been reported (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one patient was less severely affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient was less severely affected | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one patient with normal psychomotor development has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with normal psychomotor development has been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one patient with normal psychomotor development has been reported (last curated december 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with normal psychomotor development has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one patient with unrelated german parents has been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with unrelated german parents has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one swiss family with 19 affected individuals has been described (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:one-third of cases are sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one-third of cases are sporadic | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:only 46,xy individuals are affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:only 46,xy individuals are affected | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset 1-12 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 1-12 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset 1-70 years of age (95% by early 50's) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 1-70 years of age (95% by early 50's) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset 13 to 63 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 13 to 63 years of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset 20-55 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 20-55 years of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset 5 to 10 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 5 to 10 years of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset 7 to 15 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 7 to 15 months of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset around adolescence in males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset around adolescence in males | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset between 3 and 11 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 3 and 11 years of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset between 3 and 6 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 3 and 6 months of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset between 34 and 51 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 34 and 51 years of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset bimodal, ages 16-22 and ages 57-60 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset bimodal, ages 16-22 and ages 57-60 | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset day of life 1-10 in infants fed lactose-containing milk n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset day of life 1-10 in infants fed lactose-containing milk | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in adolescence or adulthood has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in adolescence or adulthood has been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in adolescence or young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in adolescence or young adulthood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in adolescence or young adulthood has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in adolescence or young adulthood has been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in childhood (later than in antenatal bartter syndrome 241200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (later than in antenatal bartter syndrome 241200) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in childhood (mean 6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (mean 6 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in childhood (range infancy to 10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (range infancy to 10 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in childhood or adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or adolescence | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in childhood or adolescence (median age of 9 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or adolescence (median age of 9 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in early childhood (age 3) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early childhood (age 3) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in early twenties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early twenties | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in fifth or sixth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in fifth or sixth decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in first 2 decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first 2 decades | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in first 2 decades (range 6 to 15 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first 2 decades (range 6 to 15 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in first 2 decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first 2 decades of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in first 6 months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first 6 months of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in first decade (e.g. 180380.0028) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade (e.g. 180380.0028) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in first hours to days of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first hours to days of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in first weeks or months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first weeks or months of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in infancy after normal birth and neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy after normal birth and neonatal period | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in infancy and early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy and early childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in late teens to twenties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late teens to twenties | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in middle age (44 to 60 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in middle age (44 to 60 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in neonatal period or before age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in neonatal period or before age 2 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in the first 2 years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the first 2 years of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset in third to fifth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in third to fifth decade of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of bleeding symptoms in childhood or young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of bleeding symptoms in childhood or young adulthood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of deafness in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of deafness in early childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of diabetes at less than 25 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of diabetes at less than 25 years of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of edema in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of edema in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of fractures 4-18 months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of fractures 4-18 months of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of hand involvement at 14 to 60 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hand involvement at 14 to 60 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of hearing loss in childhood (range 7 to 13 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss in childhood (range 7 to 13 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of hearing loss in first or second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss in first or second decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of hearing loss in second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss in second decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of hearing loss ranges from childhood to young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of lipodystrophy later in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of lipodystrophy later in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of lymphedema around puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of lymphedema around puberty | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of macrocephaly in the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of macrocephaly in the first year of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of normal pressure hydrocephalus after age 65 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of normal pressure hydrocephalus after age 65 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of overgrowth in the first year of life (in most cases) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of overgrowth in the first year of life (in most cases) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of renal failure in adulthood (range twenties to fifties) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of renal failure in adulthood (range twenties to fifties) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of seizures in first 6 months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures in first 6 months of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in early childhood in most patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in early childhood in most patients | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in fifth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in fifth decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of symptoms in second to fifth decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in second to fifth decades of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset of visual dysfunction in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of visual dysfunction in early childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset usually in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in adulthood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset usually in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset usually in childhood (infancy to teens) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in childhood (infancy to teens) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset usually in second decade (may occur earlier) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in second decade (may occur earlier) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset usually in second decade of life, although earlier and later onset have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in second decade of life, although earlier and later onset have been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:onset within first 3 months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset within first 3 months of life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:other half show head circumference more retarded than height n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:other half show head circumference more retarded than height | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:pain in lower limb n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pain in lower limb | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:pain is noted to feel cold n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pain is noted to feel cold | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:part of 'dent disease complex' n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:part of 'dent disease complex' | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:pathogenic alleles contain 71 to 1,300 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pathogenic alleles contain 71 to 1,300 repeats | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:pathogenic alleles contain 75-11,000 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pathogenic alleles contain 75-11,000 repeats | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients are often asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients are often asymptomatic | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients are prone to impaired thermoregulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients are prone to impaired thermoregulation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients gradually develop tolerance to carbohydrates over time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients gradually develop tolerance to carbohydrates over time | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients may become wheelchair-bound after about 12 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may become wheelchair-bound after about 12 years | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients may have seizures only, dyskinesia only, or both n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may have seizures only, dyskinesia only, or both | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients may or may not have dysmorphic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may or may not have dysmorphic features | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients may show normal development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may show normal development | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients often nonambulatory by the mid-twenties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients often nonambulatory by the mid-twenties | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients retain ambulation even after long disease course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients retain ambulation even after long disease course | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients usually require total thyroidectomy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients usually require total thyroidectomy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients with null mutations have neonatal onset within 72 hours of birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with null mutations have neonatal onset within 72 hours of birth | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients with t2 deficiency and urinary abnormalities may be asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:patients with total c4 deficiency are homozygous for double null c4 haplotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:peak age of onset in second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:peak age of onset in second decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:performing laboratory phone:tele:pt:facility:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:performing laboratory phone:tele:pt:facility:nom | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phenotype may be exacerbated by maltreatment in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype may be exacerbated by maltreatment in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phenotypic heterogeneity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic heterogeneity | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with currarino syndrome (176450) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with currarino syndrome (176450) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with cytochrome c oxidase deficiency (220110) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with revesz syndrome (268130) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with revesz syndrome (268130) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:phenotypic variation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic variation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:pigmented spots appear in infancy through childhood and fade in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pigmented spots appear in infancy through childhood and fade in adulthood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:poor outcome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poor outcome | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:possible increase of aneuploidy in offspring n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible increase of aneuploidy in offspring | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:possible x-linked inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible x-linked inheritance | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:possible x-linked recessive inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible x-linked recessive inheritance | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:possibly allelic to cohen syndrome (216550) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possibly allelic to cohen syndrome (216550) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:preaxial involvement in approximately 60% of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:preaxial involvement in approximately 60% of patients | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:precipitated by fatigue or alcohol n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:premature death may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:premature death may occur | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:prenatal history of maternal diabetes in 35% of cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prenatal history of maternal diabetes in 35% of cases | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:prenatal onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prenatal onset | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:prevalence in slovenia is 1 in 43,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence in slovenia is 1 in 43,000 | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:prevalence in taiwan is 1 in 132,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence in taiwan is 1 in 132,000 | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:prevalence of sleep terrors less than 1% in adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of sleep terrors less than 1% in adults | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:prevalence of sleepwalking about 3% in adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of sleepwalking about 3% in adults | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:prevalent in newfoundland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent in newfoundland | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:radioresistant dna synthesis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:radioresistant dna synthesis | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:rare adult cases reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rare adult cases reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:recurrence is possible n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrence is possible | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:recurrent bacterial infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent bacterial infection | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:reduced exercise tolerance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced exercise tolerance | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:reference lab test identifier:id:xxx:reference lab test:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reference lab test identifier:id:xxx:reference lab test:nom | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:regional, racial, and ethnic clustering has been noted n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:regional, racial, and ethnic clustering has been noted | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:regression in infancy (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:regression in infancy (in some patients) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:relatively benign course after acute episodes in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relatively benign course after acute episodes in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:relatively mild phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relatively mild phenotype | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:relatively slow progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relatively slow progression | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:relatives with multiple small congenital pigmented nevi n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relatives with multiple small congenital pigmented nevi | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:renal failure in second or third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:renal failure in second or third decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:repeat tracts may expand as patient ages (somatic instability) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:repeat tracts may expand as patient ages (somatic instability) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:reported in individuals of sephardic jewish ancestry n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported in individuals of sephardic jewish ancestry | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:response to acetazolamide n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:response to acetazolamide | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:right side affected greater than left side n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:right side affected greater than left side | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:risk of sudden death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk of sudden death | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:see also dyggve-melchior-clausen disease (223800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also dyggve-melchior-clausen disease (223800) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:see also hmn2b (608634) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also hmn2b (608634) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:see also optic atrophy with deafness (125250), an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also optic atrophy with deafness (125250), an allelic disorder | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:see also severe, early-onset form (300717) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also severe, early-onset form (300717) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:see also x-linked dominant form (300652) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also x-linked dominant form (300652) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:see the more common methemoglobinemia types i and ii (250800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see the more common methemoglobinemia types i and ii (250800) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:seizures are often refractory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are often refractory | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:seizures may remit in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may remit in adolescence | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:seizures resolve by 4 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures resolve by 4 months of age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:sensory loss is rapidly progressive and severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sensory loss is rapidly progressive and severe | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:serum triglycerides decrease with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:serum triglycerides decrease with age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:severe heat intolerance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe heat intolerance | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:severe infections in untreated patients with neutropenia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe infections in untreated patients with neutropenia | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:severe involvement of legs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe involvement of legs | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:sib b did not receive mmr vaccination and was asymptomatic in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sib b did not receive mmr vaccination and was asymptomatic in infancy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:single lesions in sporadic cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:single lesions in sporadic cases | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:single mitochondrial dna deletions are found in sporadic kss patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:single mitochondrial dna deletions are found in sporadic kss patients | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:six genetically confirmed patients have been reported (as of december 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:six genetically confirmed patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:six patients reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:six patients reported (last curated march 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:skin appears normal at birth, with development of generalized ichthyosis in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:skin lesions are primarily trauma-induced but occasionally appear spontaneously n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:sleep terrors usually remit during adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sleep terrors usually remit during adolescence | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:slow, progressive growth, then stable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slow, progressive growth, then stable | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:slowly or non-progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slowly or non-progressive | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:solitary disease is more common in males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:solitary disease is more common in males | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some familial occurrence, most de novo aberrations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some familial occurrence, most de novo aberrations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some females are affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some females are affected | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some mutation carriers have mild features of frontonasal dysplasia (613451) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients are clinically unaffected. n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients are clinically unaffected. | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients have asymptomatic hypocalcemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have asymptomatic hypocalcemia | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients may be asymptomatic and have only short telomeres n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may be asymptomatic and have only short telomeres | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients may benefit from coenzyme q10 treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may benefit from coenzyme q10 treatment | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients may show deterioration with infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may show deterioration with infections | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients may show neurologic improvement late in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may show neurologic improvement late in life | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients require insulin for treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients require insulin for treatment | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients show a favorable response to sulfonylurea treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show a favorable response to sulfonylurea treatment | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients show onset later in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show onset later in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:stillborn or infantile death usual in prenatal form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stillborn or infantile death usual in prenatal form | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:stillborn or lethal in the neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stillborn or lethal in the neonatal period | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:sudden death may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden death may occur | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:survival 30 to 40 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survival 30 to 40 years after onset | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:symptoms ameliorate with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms ameliorate with age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:symptoms are not relieved by alcohol n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms are not relieved by alcohol | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:symptoms may be exacerbated by pregnancy or trauma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms may be exacerbated by pregnancy or trauma | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:symptoms of zinc deficiency occur only in exclusively breastfed infants n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:symptoms often decrease or remit with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms often decrease or remit with age | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:symptoms relieved by progesterone antagonist (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms relieved by progesterone antagonist (in some patients) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:systemic amyloid deposition may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:systemic amyloid deposition may occur | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:teeth may undergo post-eruptive changes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:teeth may undergo post-eruptive changes | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:telangiectases persist in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:telangiectases persist in adulthood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:tendency to lighter pigmentation than unaffected relatives n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tendency to lighter pigmentation than unaffected relatives | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:the frequency is estimated at 1/20,000 to 1/50,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the frequency is estimated at 1/20,000 to 1/50,000 births | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:those with intermediate repeat expansions show reduced penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:those with intermediate repeat expansions show reduced penetrance | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three families have been reported (as of december 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families have been reported (as of december 2011) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three fetuses from 1 family have been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three fetuses from 1 family have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three patients from 2 unrelated families have been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients from 2 unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three unrelated families have been reported (as of june 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three unrelated families have been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three unrelated patients have been reported (last curated january 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated january 2010) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three unrelated patients have been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three unrelated patients have been reported (last curated may 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:three unrelated patients have been reported (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:triggered by exercise, fasting, or other metabolic stresses n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:triggered by exercise, fasting, or other metabolic stresses | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:triggered by minor head trauma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:triggered by minor head trauma | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:truncating mutations in crebbp found in 10% of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:truncating mutations in crebbp found in 10% of patients | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:tumor predisposition syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tumor predisposition syndrome | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two arab muslim families have been reported (last curated october 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two arab muslim families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two consanguineous turkish families have been reported (as of august 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two consanguineous turkish families have been reported (as of august 2011) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two families have been reported (as of june 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (as of june 2011) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two japanese families have been reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two japanese families have been reported (as of february 2012) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two patients have been reported (as of august 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two patients in one ashkenzai jewish family described (last curated june 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients in one ashkenzai jewish family described (last curated june 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two patients without cardiomyopathy or cataracts have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients without cardiomyopathy or cataracts have been reported | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two sibs have been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two sisters have been reported (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sisters have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two subtypes - seminoma and nonseminoma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two subtypes - seminoma and nonseminoma | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two unrelated consanguineous families have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated consanguineous families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two unrelated consanguineous families have been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated consanguineous families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two unrelated families of european descent have been reported (last curated may 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families of european descent have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two unrelated individuals have been reported (last curated january 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated individuals have been reported (last curated january 2014) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:two unrelated patients have been reported (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:type a characterized by progressive myoclonic epilepsy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type a characterized by progressive myoclonic epilepsy | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:type ii is adult-onset (kanzaki disease, 609242) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type ii is adult-onset (kanzaki disease, 609242) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:u-shaped pattern of temperature-dependent potassium flux (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:u-shaped pattern of temperature-dependent potassium flux (in some patients) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:uncommon disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:uncommon disorder | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:usually a sporadic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually a sporadic disorder | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:usually begins in feet and legs (peroneal distribution) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:usually death in utero or rarely in neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually death in utero or rarely in neonatal period | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:usually sporadic, but 1-2% of cases are familial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually sporadic, but 1-2% of cases are familial | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range 25 to 78 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 25 to 78 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range childhood to mid-sixties) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range childhood to mid-sixties) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range from early childhood to mid-adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range from early childhood to mid-adult) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (range late infancy to adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range late infancy to adulthood) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset (usually 20 to 30 years of age) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (usually 20 to 30 years of age) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset of neuropathy (range first to sixth decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset of neuropathy (range first to sixth decade) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset, but usually in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, but usually in childhood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset, first to second decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, first to second decades | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset, range from infancy to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, range from infancy to adulthood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age at onset, ranging from prelingual at birth to fifth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, ranging from prelingual at birth to fifth decade | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age of onset (first to third decades) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (first to third decades) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age of onset (range 1 to 30 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (range 1 to 30 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable age of onset (range 4 months to 45 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (range 4 months to 45 years) | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable dysmorphic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable dysmorphic features | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable features present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable features present | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable onset, from infancy to young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable onset, from infancy to young adulthood | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable phenotype, particularly with regard to cortical malformations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype, particularly with regard to cortical malformations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable presentation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable presentation | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable severity of clinical and radiologic manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity of clinical and radiologic manifestations | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable severity of phenotype and other features may be present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity of phenotype and other features may be present | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variable severity, correlates with age at onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity, correlates with age at onset | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:variant at may present with dystonia only n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variant at may present with dystonia only | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:vhl type 1 - renal carcinoma and hemangioblastoma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:vhl type 1 - renal carcinoma and hemangioblastoma | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:visceral manifestations are less apparent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:visceral manifestations are less apparent | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:waddling gate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:waddling gate | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:wheelchair-bound after 2 decades of disease onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wheelchair-bound after 2 decades of disease onset | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 35 / 0.814 -> en:wide variability in severity of limb defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wide variability in severity of limb defects | rel=r_associated | relid=0 | w=35 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:1 in 17,000 in china n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:1 in 17,000 in china | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:15 patients from 5 kindreds reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:15 patients from 5 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:2:1 female preponderance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:2:1 female preponderance | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:35% of patients have facial dysmorphism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:35% of patients have facial dysmorphism | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:78% due to chromosome 14 maternal uniparental disomy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:78% due to chromosome 14 maternal uniparental disomy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:a milder form has also been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a milder form has also been reported | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:a mutation in the cxorf5 gene has been reported in 1 affected family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a mutation in the cxorf5 gene has been reported in 1 affected family | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:about 25% of cases due to new mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 25% of cases due to new mutations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:absence seizures show onset between 3.5 and 4 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:absence seizures show onset between 3.5 and 4 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:accounts for 70% of all usher syndrome patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:accounts for 70% of all usher syndrome patients | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:acquired protein c deficiency seen in liver disease, dic, and following surgery n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adult form onset has after 20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult form onset has after 20 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adult onset (27 to 48 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (27 to 48 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adult onset (37 to 57 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (37 to 57 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adult onset (before 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (before 50 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adult onset (mid-forties) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (mid-forties) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adult onset (range 15 to 53 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (range 15 to 53 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adult onset (range 19 to 48 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (range 19 to 48 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adult onset (wide range of age) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (wide range of age) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adult onset may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset may occur | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:adults may lose ability to walk n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adults may lose ability to walk | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:affected individuals are negative for dermatographism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals are negative for dermatographism | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:affected individuals may have more than 1 cardiac structural defect, or none at all n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals may have more than 1 cardiac structural defect, or none at all | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:affected individuals remain ambulatory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals remain ambulatory | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:affected infants appear normal at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected infants appear normal at birth | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:affected infants die in neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected infants die in neonatal period | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:affected males have normal pubertal development and are fertile n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected males have normal pubertal development and are fertile | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:affected patients have various combinations of the main clinical features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected patients have various combinations of the main clinical features | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age at diagnosis 28 +/- 18 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at diagnosis 28 +/- 18 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age at diagnosis 36 +/- 20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at diagnosis 36 +/- 20 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age at menopause:time:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at menopause:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age at onset 15 to 25 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset 15 to 25 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age at onset 8 to 55 years (mean 40 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset 8 to 55 years (mean 40 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age at onset ranges from 50 to 70 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset ranges from 50 to 70 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age at onset ranges from early childhood to after age 50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset ranges from early childhood to after age 50 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age at onset ranges from first to sixth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset ranges from first to sixth decade | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age of onset 17 to 68 years (mean 39) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 17 to 68 years (mean 39) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age of onset 23-59 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 23-59 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age of onset varies (7 to 28 years of age) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset varies (7 to 28 years of age) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age of onset, 6-20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset, 6-20 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:age:time:pt:^patient:qn:calculated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age:time:pt:^patient:qn:calculated | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:all cases are de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all cases are de novo | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:all cases from a remote village, sabinas, in northern mexico n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all cases from a remote village, sabinas, in northern mexico | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:all cases occur in old order amish, lancaster county, pennsylvania n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all cases occur in old order amish, lancaster county, pennsylvania | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:all reported mutations have occurred de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all reported mutations have occurred de novo | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to androgen insensitivity syndrome (ais, 300068) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to autosomal dominant form (129490) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to autosomal dominant form (129490) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to cmt4a (214400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to cmt4a (214400) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to early-onset sarcoidosis (609464) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to early-onset sarcoidosis (609464) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to limb-mammary syndrome (lms, 603543) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to limb-mammary syndrome (lms, 603543) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorder to spastic paraplegia-3 (spg3, 182600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, 145900), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and cmt with deafness (118300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, 145900), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and cmt with deafness (118300) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic to deafness, autosomal recessive 12 (601386) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to deafness, autosomal recessive 12 (601386) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic to tyrosinemia, type iii (276720) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to tyrosinemia, type iii (276720) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:almost all patients require total parenteral nutrition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:almost all patients require total parenteral nutrition | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:anemia does not respond to alpha-interferon treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anemia does not respond to alpha-interferon treatment | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:antibodies can develop after pregnancy or transfusion n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:antibodies can develop after pregnancy or transfusion | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:approximately 10% of als cases are familial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 10% of als cases are familial | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:approximately 35% of patients die during the first 2 years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 35% of patients die during the first 2 years of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:approximately 40% of patients die within newborn period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 40% of patients die within newborn period | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:approximately 50db loss in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 50db loss in adulthood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:approximately half of the mutations are de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately half of the mutations are de novo | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:associated with smoking n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with smoking | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:aura may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:aura may occur | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:autosomal dominant and autosomal recessive forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal dominant and autosomal recessive forms | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:average age at onset 16.6 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at onset 16.6 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:average age at onset 66 years although earlier onset may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at onset 66 years although earlier onset may occur | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on 1 4-generation chinese family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 4-generation chinese family | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on 1 5-generation family (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 5-generation family (last curated january 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on 2 cousins in a consanguineous family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 cousins in a consanguineous family (last curated august 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on 2 patients with p4hb mutations (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 patients with p4hb mutations (last curated april 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on a report of one dutch family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on a report of one dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on one report of 4 unrelated sporadic patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one report of 4 unrelated sporadic patients | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on report of 2 affected sisters (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 affected sisters (last curated march 2016) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on report of 2 probands (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 probands (last curated october 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on report of 2 turkish sisters (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 turkish sisters (last curated july 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on report of 2 unrelated patients (last curated may 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 unrelated patients (last curated may 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:based on the report of one lebanese family (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on the report of one lebanese family (last curated october 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:between 2 and 7% of children will develop afebrile seizure disorders later in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:birth date:time stamp -- date and time:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:bleeding is usually delayed-onset after challenge n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bleeding is usually delayed-onset after challenge | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:both autosomal dominant and autosomal recessive inheritance has been described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both autosomal dominant and autosomal recessive inheritance has been described | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:both mutations occurred de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both mutations occurred de novo | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:broad-based gait n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:broad-based gait | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:carnitine supplementation can prevent further episodes and declines in cardiac function n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carnitine supplementation can prevent further episodes and declines in cardiac function | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:carrier females may show neuropsychologic impairment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females may show neuropsychologic impairment | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:carrier males are fertile n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier males are fertile | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:caused by heterozygous germline mutation and second-hit somatic mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by heterozygous germline mutation and second-hit somatic mutation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:caused by somatic mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by somatic mutations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:central apneic episodes may be fatal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:central apneic episodes may be fatal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:cholinesterase inhibitors may be beneficial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cholinesterase inhibitors may be beneficial | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:classic severe form shows onset at 2 to 3 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:classic severe form shows onset at 2 to 3 months of age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:classical form (type i), less severe with survival into adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:classical form (type i), less severe with survival into adulthood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:clinical features other than liver findings may vary n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical features other than liver findings may vary | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:coloboma is associated with larger microdeletion (490kb) of 11q13 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:common in south african whites n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:common in south african whites | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:compound heterozygosity common n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:compound heterozygosity common | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:congenital - over 2,000 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital - over 2,000 repeats | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:congenital or early onset hearing loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital or early onset hearing loss | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:connatal form (type ii), most severe with death in first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:connatal form (type ii), most severe with death in first decade | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:coronary artery disease or myocardial infarction in fifth or sixth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:date of autopsy:date:pt:^patient:qn n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:date of autopsy:date:pt:^patient:qn | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:date ultrasound:date:pt:^patient:qn n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:date ultrasound:date:pt:^patient:qn | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:de novo mutation identified in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:de novo mutation identified in some patients | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death at 10 to 15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death at 10 to 15 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death can occur in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death can occur in infancy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death due to respiratory failure or infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death due to respiratory failure or infection | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death in first days of life (family b) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in first days of life (family b) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death in infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy or early childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death in infancy, usually from sepsis, dehydration, or acidosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy, usually from sepsis, dehydration, or acidosis | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death in the first months or years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in the first months or years of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death occurs in second or third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death occurs in second or third decade | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death often secondary to infectious disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often secondary to infectious disease | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:death secondary to respiratory infection or failure before age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death secondary to respiratory infection or failure before age 2 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:delayed psychomotor development apparent in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:delayed psychomotor development apparent in infancy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:deletions occur de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:deletions occur de novo | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:diagnosis in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis in early childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:diagnosis occurs between 23 and 33 weeks' gestation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis occurs between 23 and 33 weeks' gestation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:discordant phenotype among monozygotic twins has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:discordant phenotype among monozygotic twins has been reported | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:disease exacerbation during summer due to heat n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disease exacerbation during summer due to heat | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:disease usually progresses in a cephalocaudal direction n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disease usually progresses in a cephalocaudal direction | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:distinct disorder from reduced zinc in breast milk (608118) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from reduced zinc in breast milk (608118) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:distinct from pseudopili annulati (613241) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct from pseudopili annulati (613241) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:distribution of lesions may be generalized, palmoplantar, or acral n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distribution of lesions may be generalized, palmoplantar, or acral | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:dopa-unresponsive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dopa-unresponsive | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:dysmorphic facial features reported in 1 family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dysmorphic facial features reported in 1 family | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:dysmorphic features are mild or variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dysmorphic features are mild or variable | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:dystonia and seizures may persist after resolution of episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dystonia and seizures may persist after resolution of episodes | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:earliest age of onset 12 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:earliest age of onset 12 years of age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:early age of onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early age of onset | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:early age of onset (approximately 45 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early age of onset (approximately 45 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:early death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:early death in the first few weeks of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death in the first few weeks of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:early death may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death may occur | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:early onset in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early onset in some patients | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:eight patients from 2 unrelated families have been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:eight patients from 2 unrelated families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:electroretinogram reduction as early as 4 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:electroretinogram reduction as early as 4 years of age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:elevated afp can be seen in other disorders n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:elevated afp can be seen in other disorders | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:empiric risk for a sib of an affected child between 2 and 5% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:empiric risk for a sib of an affected child between 2 and 5% | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:episodes are triggered by fatigue, illness, or strenuous exercise n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes are triggered by fatigue, illness, or strenuous exercise | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:episodes last from several hours to days n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes last from several hours to days | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:estimated frequency 1/2000-1/4000 individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated frequency 1/2000-1/4000 individuals | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:estimated incidence of 1-2 in 10,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated incidence of 1-2 in 10,000 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:exacerbated by stress n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:exacerbated by stress | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:f syndrome (102510) has many overlapping features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:f syndrome (102510) has many overlapping features | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:families a and b had a more severe phenotype resulting in death in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:families a and b had a more severe phenotype resulting in death in early childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:fatal without hematopoietic stem cell transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatal without hematopoietic stem cell transplantation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:favorable response to bh4 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to bh4 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:favorable response to oral creatine treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to oral creatine treatment | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:favorable response to treatment with coenzyme q10 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to treatment with coenzyme q10 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:features are highly variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features are highly variable | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:feet are unaffected in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:feet are unaffected in some patients | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:female carriers may be less severely affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may be less severely affected | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:female predominance (4:1) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female predominance (4:1) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:females are most often affected, but rare male cases have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:females are most often affected, but rare male cases have been reported | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:females carriers have more variable age at onset and severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:females carriers have more variable age at onset and severity | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:females more severely affected than males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:females more severely affected than males | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:females tend to have earlier onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:females tend to have earlier onset | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:fifty percent of cases secondary to new mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fifty percent of cases secondary to new mutations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:first described in gypsy group from bulgaria n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:first described in gypsy group from bulgaria | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:first name:pn:pt:^guardian or legally authorized representative:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:first name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:for similar autosomal dominant form, see 162350 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:for similar autosomal dominant form, see 162350 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:four patients from 3 families have been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients from 3 families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:four unrelated patients have been reported (last curated october 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated patients have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:fractures can occur in utero, during labor and delivery, or in newborn period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fractures can occur in utero, during labor and delivery, or in newborn period | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:frequency of attack, monthly - bimonthly n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequency of attack, monthly - bimonthly | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:frequently occurs in navajo children, especially in western reservations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequently occurs in navajo children, especially in western reservations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:funduscopy before 2 years of age is unremarkable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:funduscopy before 2 years of age is unremarkable | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:gene frequency in northwest puerto rico 1 in 18 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gene frequency in northwest puerto rico 1 in 18 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:generally mild phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:generally mild phenotype | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 125800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 125800) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 157640) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 157640) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 159900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 159900) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 606215) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 606215) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see 613254) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 613254) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see cmt4b2, 604563) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cmt4b2, 604563) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see hht1, 187300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see hht1, 187300) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity of waardenburg syndrome type 2 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity of waardenburg syndrome type 2 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see aprm2 (610422) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see aprm2 (610422) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:genetic heterogeneity, some patients not linked to fgfr3 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, some patients not linked to fgfr3 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:gonadal mosaicism may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gonadal mosaicism may occur | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:good response to vitamin d treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to vitamin d treatment | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:gradual spontaneous improvement in the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gradual spontaneous improvement in the first year of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:greater expression in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:greater expression in females | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:hair phenotype present at birth and involves entire scalp region n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hair phenotype present at birth and involves entire scalp region | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:hairy elbows become apparent in infancy and regress during adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hairy elbows become apparent in infancy and regress during adolescence | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:haploinsufficiency of grn (138945) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:haploinsufficiency of grn (138945) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:hearing loss is variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss is variable | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:hearing loss may vary in severity and range between ears n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss may vary in severity and range between ears | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:heterogeneous disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterogeneous disorder | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:heterozygous females may have situs inversus or other midline defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous females may have situs inversus or other midline defects | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:heterozygous mutation carriers may have late-onset cardiac arrhythmias n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous mutation carriers may have late-onset cardiac arrhythmias | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:high early mortality rate if untreated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high early mortality rate if untreated | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:high frequency in equatorial africa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency in equatorial africa | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:highly variable frequency and severity of attacks n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable frequency and severity of attacks | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:highly variable phenotype with regard to pigmentation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype with regard to pigmentation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:homo sapiens do not have a functional l-gulonolactone oxidase gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:homo sapiens do not have a functional l-gulonolactone oxidase gene | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:hyperkeratosis triggered by chronic mechanical irritation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hyperkeratosis triggered by chronic mechanical irritation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:hyperlipidemia may be partially responsive to fat-restricted diet n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hyperlipidemia may be partially responsive to fat-restricted diet | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:immunologic defects are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:immunologic defects are variable | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:in the absence of hydrops, death occurs within 3 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in the absence of hydrops, death occurs within 3 months | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 100 in some local nordic areas n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 100 in some local nordic areas | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 25,000 livebirths n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 25,000 livebirths | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:incidence of 1 in 320,000 births among non-jewish persons n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 320,000 births among non-jewish persons | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:incidence of 12.2 per 100,000 in finland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 12.2 per 100,000 in finland | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:increased bleeding after surgery n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased bleeding after surgery | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:increased frequency in eastern pennsylvania amish n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in eastern pennsylvania amish | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:increased frequency in the faroe islands (carrier 1 in 25) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in the faroe islands (carrier 1 in 25) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:increased risk of bilateral breast cancer n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased risk of bilateral breast cancer | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:increased sensitivity to heat n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased sensitivity to heat | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:increased susceptibility to infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased susceptibility to infections | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:individuals may accumulate more pigment in hair and eyes with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:individuals may accumulate more pigment in hair and eyes with age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:inflammatory bowel disease may develop in childhood or adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:inflammatory bowel disease may develop in childhood or adolescence | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:intellectual disability is variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intellectual disability is variable | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:intrafamilial variability in severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial variability in severity | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:isolated cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:isolated cases | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:jbts shows autosomal dominant inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:jbts shows autosomal dominant inheritance | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:juvenile and adult forms are isolated glycerol kinase deficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:juvenile and adult forms are isolated glycerol kinase deficiency | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:ketogenic diet may be effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ketogenic diet may be effective | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:laboratory comment:txt:pt:report:nar n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:laboratory comment:txt:pt:report:nar | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:laboratory findings are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:laboratory findings are variable | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:later onset can also occur (up to age 17 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset can also occur (up to age 17 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:later onset of hearing loss in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset of hearing loss in some patients | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:levodopa-responsive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:levodopa-responsive | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:life-threatening in infancy due to sepsis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:life-threatening in infancy due to sepsis | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:likely allelic to sc phocomelia syndrome (269000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:likely allelic to sc phocomelia syndrome (269000) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:liver failure episodes associated with fever n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:liver failure episodes associated with fever | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:lower limbs more severely affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lower limbs more severely affected | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:madelung deformity more frequent and more severe in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:madelung deformity more frequent and more severe in females | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:major fetal plasma protein produced by yolk sac and liver n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:major fetal plasma protein produced by yolk sac and liver | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:majority cases are sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority cases are sporadic | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:majority die in neonatal period secondary to respiratory insufficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:majority of cases are due to de novo mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases are due to de novo mutation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:majority of cases from middle eastern countries n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases from middle eastern countries | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:majority of patients die in neonatal period secondary to respiratory insufficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of patients die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:many become wheelchair bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many become wheelchair bound | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:many cases due to de novo mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many cases due to de novo mutation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:many cases result from de novo mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many cases result from de novo mutations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:marked variability in severity of the skin lesions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:massive aortic aneurysm can cause airway compression in affected infants n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:massive aortic aneurysm can cause airway compression in affected infants | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:may be fatal in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be fatal in infancy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:may be induced by fever or hot bath n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be induced by fever or hot bath | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:may be lethal if untreated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be lethal if untreated | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:may be lethal in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be lethal in infancy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:may be seen with other forms of cancer in a family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be seen with other forms of cancer in a family | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:may occur cormorbidly with poland syndrome (173800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may occur cormorbidly with poland syndrome (173800) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mean age at onset 57-60 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 57-60 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mean age at onset 66.8 years (range 47-77) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 66.8 years (range 47-77) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mean age at onset of bone fractures, 24 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset of bone fractures, 24 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mean age at resolution of symptoms 10 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at resolution of symptoms 10 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mean age at termination 3 to 4 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at termination 3 to 4 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mean age of death is 34 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of death is 34 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mean age of onset 34 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 34 months | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:median survival 5.7 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median survival 5.7 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mild disease course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild disease course | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mild phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild phenotype | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mode of inheritance is unclear n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mode of inheritance is unclear | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:more common in women (90%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more common in women (90%) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:more commonly observed in women n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more commonly observed in women | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:more frequent in males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more frequent in males | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mosaic distribution of lesions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mosaic distribution of lesions | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most affected infants die in the first month of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most affected infants die in the first month of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most cases are autosomal dominant, recessive inheritance has rarely been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases are autosomal dominant, recessive inheritance has rarely been reported | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most cases sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases sporadic | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most common inherited bleeding disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common inherited bleeding disorder | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most frequently affected joints - hands (98%) and feet (88%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most frequently affected joints - hands (98%) and feet (88%) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most patients are clinically asymptomatic and show normal development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients are clinically asymptomatic and show normal development | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most patients are severely affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients are severely affected | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most patients become seizure-free by age 3 or 4 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients become seizure-free by age 3 or 4 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most patients become wheelchair-bound after 20 to 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients become wheelchair-bound after 20 to 30 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most patients die of hepatic failure by 9 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die of hepatic failure by 9 months of age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most patients require renal transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients require renal transplantation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most patients show early childhood onset after a period of normal development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients show early childhood onset after a period of normal development | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:most reported cases come from the island of mauritius or nearby islands n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most reported cases come from the island of mauritius or nearby islands | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mother who carries the mutation is clinically unaffected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mother who carries the mutation is clinically unaffected | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:motor symptoms are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:motor symptoms are variable | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:movements worsened by anxiety n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:movements worsened by anxiety | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:mutations result in inactivation of nkx3-2 (602183) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutations result in inactivation of nkx3-2 (602183) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:n-myc oncogene (164840) amplification is associated with poor prognosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:n-myc oncogene (164840) amplification is associated with poor prognosis | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:natural aversion to carbohydrates and favoring of protein n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:natural aversion to carbohydrates and favoring of protein | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:nearly 100% penetrance by 60 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nearly 100% penetrance by 60 years of age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:neonatal lethal due to respiratory insufficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal lethal due to respiratory insufficiency | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:neurologic deterioration is severe after age 2 to 2.5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic deterioration is severe after age 2 to 2.5 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:neurologic symptoms are progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic symptoms are progressive | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:neuromuscular forms can present as perinate, infant, child, or adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neuromuscular forms can present as perinate, infant, child, or adult | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:new skin lesions stop appearing before adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:new skin lesions stop appearing before adolescence | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:nine patients have been reported in detail (as of 14 june 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nine patients have been reported in detail (as of 14 june 2011) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:no extraocular findings n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no extraocular findings | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:no opportunistic infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no opportunistic infections | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:non-tender n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:non-tender | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:normal alleles have 25 to 44 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal alleles have 25 to 44 repeats | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:normal birth (finding) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal birth (finding) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:normal cag repeat length is 7 to 32 triplets n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal cag repeat length is 7 to 32 triplets | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:normal first month n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal first month | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:normal neonatal blood phenylalanine has been reported in rare patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal neonatal blood phenylalanine has been reported in rare patients | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:normal neonatal course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal neonatal course | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:normal range of expanded repeats 9-29, hd range 36-121 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal range of expanded repeats 9-29, hd range 36-121 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:not all patients have facial dysmorphism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:not all patients have facial dysmorphism | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:nphp shows autosomal recessive inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nphp shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:nystagmus is often the presenting sign n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nystagmus is often the presenting sign | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:obligate female carriers may show mild signs of muscle weakness, especially of the face n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:observed in individuals of bulgarian roma bowlmaker ethnic group n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:observed in individuals of bulgarian roma bowlmaker ethnic group | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:occurs during pregnancy, most often in the third trimester n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs during pregnancy, most often in the third trimester | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:occurs in women and is triggered by pregnancy or estrogen therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in women and is triggered by pregnancy or estrogen therapy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:ocular abnormalities may be very mild n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ocular abnormalities may be very mild | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:often associated with klippel-feil anomaly (118100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often associated with klippel-feil anomaly (118100) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:often presents with cranial or cervical involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often presents with cranial or cervical involvement | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:old order amish, african american, and french patients have been described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:old order amish, african american, and french patients have been described | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:older patients become wheelchair-dependent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:older patients become wheelchair-dependent | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one 9-generation family and 1 isolated patient described (last curated march 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one consanguineous family has been reported (last curated december 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family has been reported (last curated december 2010) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one consanguineous turkish family has been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous turkish family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated january 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated november 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one family has been reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one han chinese family and one german family have been described (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one han chinese family and one german family have been described (last curated april 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one pakistani reported (last curated november 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one pakistani reported (last curated november 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one patient died at age 7 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient died at age 7 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one patient has been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one patient reported with slitrk1 mutation (as of january 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient reported with slitrk1 mutation (as of january 2010) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one report of brother and sister from nonconsanguineous parents n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one report of brother and sister from nonconsanguineous parents | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one spanish family has been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one spanish family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:one-third of cases are familial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one-third of cases are familial | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:only 10% develop hypertension at 18 years of age or less n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:only 10% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset 30-40 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 30-40 years of age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset 3rd to 4th decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 3rd to 4th decade of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset 5 to 7 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 5 to 7 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset 50 to 65 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 50 to 65 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset after age 20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset after age 20 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset around age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset around age 2 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset at age 5 to 15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at age 5 to 15 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset at birth or in first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at birth or in first months of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset at early age, associated with sudden death in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at early age, associated with sudden death in childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset between 28 and 42 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 28 and 42 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset between 3 and 8 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 3 and 8 months of age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset between 6 and 9 months after normal early development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 6 and 9 months after normal early development | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset between second to sixth decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between second to sixth decades of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in childhood (5 to 10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (5 to 10 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in childhood (mean age 10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (mean age 10 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in early childhood or adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early childhood or adolescence | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in early to late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early to late childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in first 8 weeks of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first 8 weeks of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first months of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in fourth to sixth decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in fourth to sixth decades | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in infancy (3 to 7 months) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy (3 to 7 months) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in infancy (average 4 months, but may be earlier) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy (average 4 months, but may be earlier) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in late-childhood to early adulthood (12 to 20 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late-childhood to early adulthood (12 to 20 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in second and third decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second and third decades of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in second decade of life progresses from mild to profound hearing loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second decade of life progresses from mild to profound hearing loss | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in teenage years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in teenage years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset in teens has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in teens has been reported | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of abnormal eye movements in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of abnormal eye movements in early childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of ataxia between 1 and 3 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of ataxia between 1 and 3 years of age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of bleeding in infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of bleeding in infancy or early childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of bone fragility in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of bone fragility in childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of cardiomyopathy may occur several months after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of cardiomyopathy may occur several months after birth | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of deafness and diabetes in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of deafness and diabetes in adulthood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of disease in fourth or fifth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease in fourth or fifth decade of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of disease in late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease in late childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of essential tremor between 16 and 44 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of essential tremor between 16 and 44 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of hyperuricemia or gout in young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hyperuricemia or gout in young adulthood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of lesions may occur in early childhood or as late as the seventh decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of lesions may occur in early childhood or as late as the seventh decade | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of muscle weakness in early childhood, usually before age 10 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of muscle weakness in early childhood, usually before age 10 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of neurologic features is variable, even within the same family (range early childhood to adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of other symptoms in adolescence or early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of other symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of peripheral neuropathy in the first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of peripheral neuropathy in the first decade | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of renal dysfunction in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of renal dysfunction in early childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of seizures in first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures in first months of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in childhood with stiff, painful joints n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in childhood with stiff, painful joints | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in third to fourth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in third to fourth decade of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms in third to sixth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in third to sixth decade of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of symptoms often associated with nonspecific febrile illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms often associated with nonspecific febrile illness | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of thrombosis by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of thrombosis by age 2 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset of visual loss in childhood (around age 5 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of visual loss in childhood (around age 5 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset ranges from birth to age 4 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset ranges from birth to age 4 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset ranges from young adulthood to sixties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset ranges from young adulthood to sixties | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset usually associated with febrile illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually associated with febrile illness | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset usually in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in adolescence | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset usually in childhood after bcg vaccination n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in childhood after bcg vaccination | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset usually in late adolescence or early adulthood (range 15 to 45 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset usually in late infancy or childhood (1 to 6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in late infancy or childhood (1 to 6 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:onset usually in second or third decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in second or third decades | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:pain tends to occur later in the day n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pain tends to occur later in the day | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:pathogenic alleles contain greater than 41 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pathogenic alleles contain greater than 41 repeats | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:pathogenic cag repeat length is 51 to 78 triplets n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pathogenic cag repeat length is 51 to 78 triplets | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients develop acute symptoms under physiologic stress due to illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients develop acute symptoms under physiologic stress due to illness | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients exhibit no signs of ocular or cutaneous albinism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients exhibit no signs of ocular or cutaneous albinism | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients have normal levels of vitamin a, beta-carotene, and zinc n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients have normal levels of vitamin a, beta-carotene, and zinc | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients may show intermittent signs of improvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may show intermittent signs of improvement | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients with homozygous mutations have a more severe disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with homozygous mutations have a more severe disorder | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:patients younger than 30 years complain only that they cannot run fast n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients younger than 30 years complain only that they cannot run fast | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:phenotypic similarities to noonan syndrome (163950) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic similarities to noonan syndrome (163950) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:phenotypic variability within families and among patients carrying the same mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic variability within families and among patients carrying the same mutation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:possible autosomal dominant (165199) and autosomal recessive (258650) forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:precipitated by mechanical compression or pressure on nerve n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitated by mechanical compression or pressure on nerve | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:precipitated by sleep deprivation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitated by sleep deprivation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:precipitating factors - ingestion of wheat gluten, rye, and/or barley n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:precipitation by pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitation by pregnancy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:prenatal diagnosis by ultrasound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prenatal diagnosis by ultrasound | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:prenatal or perinatal death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prenatal or perinatal death | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:present at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:present at birth | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:presentation between 6-18 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation between 6-18 months | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:presenting symptoms in the upper body n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presenting symptoms in the upper body | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 3,900 in south africa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 3,900 in south africa | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:prevalence of 1 in 50,000-70,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 50,000-70,000 live births | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:prevalence of sleep terrors about 3% in children n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of sleep terrors about 3% in children | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:prevalent among individuals of east asian descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent among individuals of east asian descent | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:prevalent in sweden n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent in sweden | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:progression of phenotype with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progression of phenotype with age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:progressive cerebellar ataxia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive cerebellar ataxia | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:progressive clinical course with onset in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive clinical course with onset in childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:prominent psychiatric symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prominent psychiatric symptoms | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:pseudomembrane formation triggered by injury, infection, irritation, surgery n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:quinidine therapy may be effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:quinidine therapy may be effective | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:rapid progression in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapid progression in adolescence | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:rapidly progressive (6-24 months) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapidly progressive (6-24 months) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:rarely produces clinical jaundice n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rarely produces clinical jaundice | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:recurrence of symptoms after cholecystectomy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrence of symptoms after cholecystectomy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:recurrent bacterial, viral, and fungal infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent bacterial, viral, and fungal infections | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:reduced life expectancy, death by 10 years of age in 70% of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced life expectancy, death by 10 years of age in 70% of patients | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:reduced penetrance (approximately 87%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced penetrance (approximately 87%) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:reduced penetrance has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced penetrance has been reported | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:reported in individuals of french canadian origin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported in individuals of french canadian origin | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:reported in the ohio amish anabaptist community n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported in the ohio amish anabaptist community | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:secondary hemorrhage n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:secondary hemorrhage | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:secretory diarrhea begins prenatally n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:secretory diarrhea begins prenatally | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also autosomal dominant form (160800), which is less common and less severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant form (160800), which is less common and less severe | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also autosomal form, 146450, and another x-linked form, 300633 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal form, 146450, and another x-linked form, 300633 | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also benign familial infantile convulsions (bfic1, 601764) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also benign familial infantile convulsions (bfic1, 601764) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also congenital stiff person syndrome (149400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also congenital stiff person syndrome (149400) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also da2b (601680), which is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also da2b (601680), which is an allelic disorder | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also ecyt2 (263400) and ecyt3 (609820) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also ecyt2 (263400) and ecyt3 (609820) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also erythrocytosis 1 (ecyt1, 133100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also erythrocytosis 1 (ecyt1, 133100) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome. n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome. | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also pseudopseudohypoparathyroidism (612463) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also pseudopseudohypoparathyroidism (612463) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:seizure onset at a mean of 14 months (range 6 to 36 months) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizure onset at a mean of 14 months (range 6 to 36 months) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:seizures are easily controlled by medications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are easily controlled by medications | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:seizures are refractory to medication n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are refractory to medication | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:seizures are sensitive to hyperventilation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are sensitive to hyperventilation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:seizures may be refractory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may be refractory | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:seizures may occur upon awakening or at any time during the day n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may occur upon awakening or at any time during the day | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:seizures remit spontaneously by age 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures remit spontaneously by age 5 years | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:seizures tend to remit later in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures tend to remit later in childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:severe hypertension develops in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe hypertension develops in childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:severity of phenotype may vary with x-inactivation patterns and/or mutation type n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:severity of skin symptoms may vary within families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severity of skin symptoms may vary within families | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:shields classification - n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:shields classification - | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:skeletal and endocrine features have not been fully characterized in all of the patients reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:skin abnormalities can be present at birth or appear later in infancy or childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin abnormalities can be present at birth or appear later in infancy or childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:skin and hair abnormalities apparent at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin and hair abnormalities apparent at birth | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:skin blistering and photosensitivity improve in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin blistering and photosensitivity improve in adulthood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:skin lesions exacerbated by heat, exercise (sweating), and sunlight n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:skin lesions improve in the summer n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesions improve in the summer | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:skin lesions resolve between 6 months and 2 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesions resolve between 6 months and 2 years of age | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:slight increased risk for malignancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slight increased risk for malignancy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:slow progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slow progression | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:somatic mutations occur in adrenal tumor tissue (601639.0001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some features are variable, even within families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some features are variable, even within families | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some features may be progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some features may be progressive | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some features may be variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some features may be variable | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some heterozygous carriers may have mild manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some heterozygous carriers may have mild manifestations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some heterozygous cpt2 mutation carriers may be symptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some heterozygous cpt2 mutation carriers may be symptomatic | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some patients do not show neurologic abnormalities or dysmorphic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients do not show neurologic abnormalities or dysmorphic features | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some patients experience respiratory infections in association with episodes of jaundice in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients experience respiratory infections in association with episodes of jaundice in childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some patients have isolated cfeom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have isolated cfeom | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some patients may lose independent ambulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may lose independent ambulation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some patients may not achieve walking n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may not achieve walking | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some patients require cardiac transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients require cardiac transplantation | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:some patients show onset in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show onset in childhood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:sparing of some nails in some individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sparing of some nails in some individuals | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:spontaneous resorption (rare) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneous resorption (rare) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:sporadic occurrence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sporadic occurrence | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:sudden death due to cardiac arrhythmia may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden death due to cardiac arrhythmia may occur | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:sudden death due to cardiomyopathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden death due to cardiomyopathy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:sudden death in affected males occurs in teens n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden death in affected males occurs in teens | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:surgical intervention is not always curative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:surgical intervention is not always curative | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:symptoms are not apparent at rest n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms are not apparent at rest | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:symptoms improve during the summer n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms improve during the summer | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:symptoms induced by strenuous exercise n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms induced by strenuous exercise | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:symptoms precipitated by sudden movements n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms precipitated by sudden movements | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:symptoms show insidious onset in the late first through third decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms show insidious onset in the late first through third decades | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:symptoms vary from asymptomatic patients to patients with metabolic acidosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:syncope n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:syncope | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:telangiectasia become evident between the second and eighth year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:telangiectasia become evident between the second and eighth year of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:this patient died at age 8 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:this patient died at age 8 months | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three families have been reported (last curated august 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three families have been reported (last curated november 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families have been reported (last curated november 2010) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three families of ashkenazi jewish descent have been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families of ashkenazi jewish descent have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three patients from 2 families have been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients from 2 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three patients have been reported (as of august 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients have been reported (as of august 2011) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three patients have been reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three patients have been reported (as of november 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three times more common in males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three times more common in males | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three unrelated patients have been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three unrelated patients have been reported (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:treatment with bh4 is effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with bh4 is effective | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:treatment with enzyme replacement therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with enzyme replacement therapy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:triggers are variable, even within a family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:triggers are variable, even within a family | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two consanguineous turkish families have been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two consanguineous turkish families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two families each with two affected children have been reported (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families each with two affected children have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two families have been reported (as of may 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two families have been reported (last curated december 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two families with confirmed adra2b mutations have been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two families with different phenotypes have been reported (as of september 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families with different phenotypes have been reported (as of september 2010) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two main phenotypes, metabolic and neurologic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two main phenotypes, metabolic and neurologic | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two mother and child pairs have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two mother and child pairs have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two patients have been reported (as of august 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two sisters have been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sisters have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated boys have been reported (last curated october 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated boys have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated june 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated september 2013) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated families have been reported to have hpca mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported to have hpca mutations | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated japanese families have been reported (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated japanese families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (as of january 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated june 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients have been reported (last curated may 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated may 2015) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients with confirmed mutations have been reported (as of january 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:two unrelated patients with different phenotypes have been reported (as of march 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:type iii is intermediate form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type iii is intermediate form | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:typically sporadic occurrence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:typically sporadic occurrence | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:up to 60% of female mutation carriers develop lobular breast cancer n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:up to 60% of female mutation carriers develop lobular breast cancer | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:upper limb involvement may occur later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:upper limb involvement may occur later | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:urine turns dark on standing and alkalinization n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:urine turns dark on standing and alkalinization | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:usually affects children n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually affects children | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:usually no increased fragility of hair n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually no increased fragility of hair | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range 14 to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 14 to 50 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable age at onset (range 6 to 54 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 6 to 54 years) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable age at onset of symptoms, from second to fifth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset of symptoms, from second to fifth decade of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable age at onset of symptoms, ranging from the second to seventh decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset of symptoms, ranging from the second to seventh decades of life | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable age at onset, but most often in the first 2 decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, but most often in the first 2 decades | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable age at onset, infancy to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, infancy to adulthood | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable age of onset (range early childhood to adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (range early childhood to adult) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable cardiac defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable cardiac defects | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable cataract phenotypes within a family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable cataract phenotypes within a family | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable clinical severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable clinical severity | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable disease severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable disease severity | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable expressivity of each feature n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expressivity of each feature | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable frequency (weekly to yearly) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable frequency (weekly to yearly) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable heat tolerance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable heat tolerance | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable ictal semiology n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable ictal semiology | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable number of nails involved n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable number of nails involved | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable progression | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable progression rate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable progression rate | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable response to levodopa treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable response to levodopa treatment | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable survival n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable survival | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variable survival (some neonatal lethality) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable survival (some neonatal lethality) | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:variably severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variably severity | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:wasting of hands often occurs first n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wasting of hands often occurs first | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:wide phenotypic variability and severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wide phenotypic variability and severity | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 34 / 0.791 -> en:wide range of severity between affected members of the same family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wide range of severity between affected members of the same family | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:'second wind' phenomenon n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:'second wind' phenomenon | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:(2) juvenile or adolescent nephropathic (219900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:(2) juvenile or adolescent nephropathic (219900) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:14 patients in 8 recessive kindreds reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:14 patients in 8 recessive kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:21% of hereditary wilms tumor are bilateral n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:21% of hereditary wilms tumor are bilateral | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:23 patients from 2 kindreds reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:23 patients from 2 kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:50% of cases are de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:50% of cases are de novo | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:absence of both inner and outer dynein arms of cilia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:absence of both inner and outer dynein arms of cilia | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:accounts for approximately 5% of the epilepsies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:accounts for approximately 5% of the epilepsies | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:acute encephalopathic episodes may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acute encephalopathic episodes may occur | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:adult onset (18 to 60 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (18 to 60 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:adult onset (second to sixth decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (second to sixth decade) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:adult onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset has been reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:affected individuals are highly prone to burn-related injuries n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals are highly prone to burn-related injuries | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:affected males are infertile, whereas affected females have recurrent pregnancy loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:age at diagnosis 24 +/- 18 years for dominant disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at diagnosis 24 +/- 18 years for dominant disease | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:age at diagnosis 26 +/- 14 years for recessive disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at diagnosis 26 +/- 14 years for recessive disease | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:age at diagnosis of cataract may range up to 40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at diagnosis of cataract may range up to 40 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:age at onset 14 to 44 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset 14 to 44 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:age of onset 36 to 55 years (mean 47) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 36 to 55 years (mean 47) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:age of onset from 10 to 40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset from 10 to 40 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:age-dependent penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age-dependent penetrance | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:all reported cases have occurred sporadically n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all reported cases have occurred sporadically | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder is brugada syndrome (601144) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder is brugada syndrome (601144) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder is long qt syndrome-3 (lqt3, 603830) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to duane-radial ray syndrome (drrs, 607323) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to juvenile nephronophthisis-1 (256100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to juvenile nephronophthisis-1 (256100) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to niemann-pick disease type a (257200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to niemann-pick disease type a (257200) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to potassium-aggravated myotonia (608390) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to potassium-aggravated myotonia (608390) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to rippling muscle disease (rmd, 606072) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to rippling muscle disease (rmd, 606072) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorder to spinal muscular atrophy type i (253300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to spinal muscular atrophy type i (253300) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic disorders with clinical overlap include dss and cmt1b (118200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to cowden disease (158350), which has a later age at onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to cowden disease (158350), which has a later age at onset | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to dentinogenesis imperfecta 1 (125490) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to dentinogenesis imperfecta 1 (125490) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to ellis-van creveld syndrome (225500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to ellis-van creveld syndrome (225500) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to hawkinsinuria (140350) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to hawkinsinuria (140350) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to metaphyseal dysplasia without hypotrichosis (250460) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to naxos disease (601214) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to naxos disease (601214) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to pendred syndrome, deafness with goiter (274600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to pendred syndrome, deafness with goiter (274600) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:allelic to sialuria, finnish type (604369) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to sialuria, finnish type (604369) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:anemia is not responsive to pyridoxine supplementation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anemia is not responsive to pyridoxine supplementation | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:anemia may show favorable response to alpha-interferon treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anemia may show favorable response to alpha-interferon treatment | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:approximately 25% have a severe course and die of respiratory failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 25% have a severe course and die of respiratory failure | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:associated with idiopathic generalized epilepsy (ige, 600669) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with idiopathic generalized epilepsy (ige, 600669) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:associated with malignant hyperthermia (mhs, 145600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with malignant hyperthermia (mhs, 145600) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8). n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8). | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:asymptomatic younger patients show characteristic basal ganglia calcifications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:asymptomatic younger patients show characteristic basal ganglia calcifications | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:autoimmune manifestations are present in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autoimmune manifestations are present in some patients | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:autosomal dominant inheritance has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:autosomal dominant transmission has been rarely reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal dominant transmission has been rarely reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:autosomal recessive cytochrome b-negative cgd (233690) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive cytochrome b-negative cgd (233690) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:average age at onset 38 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at onset 38 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:average age of onset 57 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age of onset 57 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:based on 13 patients in one family (last curated november 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 13 patients in one family (last curated november 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:based on report of 2 unrelated girls (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 unrelated girls (last curated august 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:begins in hands or feet, later generalized n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:begins in hands or feet, later generalized | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:behavioral problems including stubbornness and rage n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:behavioral problems including stubbornness and rage | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:benign condition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:benign condition | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:blood glucose monitor with integrated voice synthesizer n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:blood glucose monitor with integrated voice synthesizer | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:can also be caused by contiguous gene deletion on chromosome 22q11.2 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:cardiac examination is usually unremarkable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cardiac examination is usually unremarkable | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:cardiac failure at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cardiac failure at birth | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:carrier females are unaffected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females are unaffected | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:carrier females have arthralgias in middle age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females have arthralgias in middle age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:carrier females may present with postpartum hyperammonemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females may present with postpartum hyperammonemia | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:carrier females show no phenotypic abnormalities, but may have learning difficulties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:cataracts are progressive but may vary between eyes of an individual n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cataracts are progressive but may vary between eyes of an individual | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:cataracts variably present at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cataracts variably present at birth | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:central hypoventilation occurs late in the disease and is often fatal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:central hypoventilation occurs late in the disease and is often fatal | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:chelation therapy can result in clinical improvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:chelation therapy can result in clinical improvement | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:childhood onset (average 4 to 6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood onset (average 4 to 6 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:childhood onset rarely occurs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood onset rarely occurs | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:clinical and biochemical abnormalities disappear with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical and biochemical abnormalities disappear with age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:clinical features based on 1 reported family (last curated august 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical features based on 1 reported family (last curated august 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:clinical features may vary n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical features may vary | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:clinical overlap with charcot-marie-tooth disease type 2c (606071) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:clinical variability, both pure and complicated forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical variability, both pure and complicated forms | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:colchicine treatment is not effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:colchicine treatment is not effective | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:considered to be a variant of gaucher disease type iii (231000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:considered to be a variant of gaucher disease type iii (231000) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:contractures most severe by midadolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contractures most severe by midadolescence | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:crisis precipitated by high altitude exposure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:crisis precipitated by high altitude exposure | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:cutaneous symptoms induced by cold exposure or cooling n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cutaneous symptoms induced by cold exposure or cooling | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death in first days or months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in first days or months of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death in first weeks of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in first weeks of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death in teens secondary to cardiac failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in teens secondary to cardiac failure | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death may occur in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death may occur in infancy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death often in early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often in early infancy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death often occurs in the first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often occurs in the first decade | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death secondary to renal failure, cardiac or cerebrovascular disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death secondary to renal failure, cardiac or cerebrovascular disease | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death secondary to respiratory insufficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death usually by 1 year of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually by 1 year of age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death usually occurs before 5th decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually occurs before 5th decade | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death usually occurs in first decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually occurs in first decade of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:death within several months if untreated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death within several months if untreated | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:decrease in seizure frequency in middle age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:decrease in seizure frequency in middle age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:decreased life expectancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:decreased life expectancy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:deletions in naip gene (600355) found in 18% of smaii patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:deletions in naip gene (600355) found in 18% of smaii patients | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:described in 3 unrelated infants (last curated january 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:described in 3 unrelated infants (last curated january 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:diarrhea persists even with vigorous nursing n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diarrhea persists even with vigorous nursing | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:disease shows slow progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disease shows slow progression | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:distinct disorder from autosomal dominant hyper ige syndrome (147060) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:distinctive and stereotyped sequence of events n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinctive and stereotyped sequence of events | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:diurnal fluctuation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diurnal fluctuation | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:diurnal fluctuation of neurologic symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diurnal fluctuation of neurologic symptoms | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:diurnal fluctuation, more apparent in earlier years, later subsides n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diurnal fluctuation, more apparent in earlier years, later subsides | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:dryness and impaired vision in older adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dryness and impaired vision in older adults | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:dysarthria, dysphonia, or cough precede onset of ataxia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dysarthria, dysphonia, or cough precede onset of ataxia | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:dyskinesia may occur in homozygotes (1 reported case) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dyskinesia may occur in homozygotes (1 reported case) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:dysmorphic features are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dysmorphic features are variable | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:earliest symptom onset in sixth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:earliest symptom onset in sixth decade of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:early death often due to respiratory complications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death often due to respiratory complications | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:early onset (9-48 years, but reported up to 68 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early onset (9-48 years, but reported up to 68 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:early-onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early-onset | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:early-onset severe renal disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early-onset severe renal disease | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:endocrine defects evolve over time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:endocrine defects evolve over time | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:episode frequency is monthly to yearly, and decreases with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episode frequency is monthly to yearly, and decreases with age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:episodes are triggered by cold exposure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes are triggered by cold exposure | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:episodes not triggered by alcohol, caffeine, or stress n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes not triggered by alcohol, caffeine, or stress | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:episodes of fatigue or weakness (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes of fatigue or weakness (in some patients) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:estimated frequency 1.6 cases/10,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated frequency 1.6 cases/10,000 live births | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:estimated incidence of 1 in 17,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated incidence of 1 in 17,000 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:excessive skin picking of sores n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:excessive skin picking of sores | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:extreme clinical heterogeneity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:extreme clinical heterogeneity | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:extreme phenotypic variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:extreme phenotypic variability | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:family c had a milder phenotype with survival into adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:family c had a milder phenotype with survival into adulthood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:fasting status:prthr:pt:^patient:ord:reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fasting status:prthr:pt:^patient:ord:reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:fatal in the neonatal period (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatal in the neonatal period (in some patients) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:fatal without lung transplant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatal without lung transplant | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:favorable response to alcohol in about 50% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to alcohol in about 50% | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:favorable response to l-dopa treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:features intermediate between demyelinating cmt and axonal cmt n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features intermediate between demyelinating cmt and axonal cmt | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:febrile seizures remit by age 5 or 6 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:febrile seizures remit by age 5 or 6 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:female carriers are unaffected or show neuropsychiatric features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers are unaffected or show neuropsychiatric features | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:fetal death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fetal death | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:fifty percent of cases are sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fifty percent of cases are sporadic | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:findings in muscle biopsy may be variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:findings in muscle biopsy may be variable | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:five patients from 3 unrelated families have been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five patients from 3 unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:five patients have been reported (as of april 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five patients have been reported (as of april 2011) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:four cases have been reported, all female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four cases have been reported, all female | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:four patients from 3 families have been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients from 3 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:four unrelated boys have been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated boys have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:four unrelated families have been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:four unrelated families have been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:four unrelated patients have been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:frequency and severity of symptoms do not worsen with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequency and severity of symptoms do not worsen with age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:frequently fatal within the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequently fatal within the first year of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:gender-specific phenotype (homozygous men are fertile) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gender-specific phenotype (homozygous men are fertile) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see 266900 for summary) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 266900 for summary) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see 609192) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 609192) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see cms1a1, 605809) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cms1a1, 605809) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see cmt4a 214400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cmt4a 214400) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see enfl1, 600513) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see enfl1, 600513) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see feb1 121210) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see feb1 121210) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see mcc2 deficiency 210210) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see mcc2 deficiency 210210) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity (see, e.g., 600795, 105550) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see, e.g., 600795, 105550) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see cild1 (244400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see cild1 (244400) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see spg5a (270800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see spg5a (270800) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:good response to gaba-enhancing medications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to gaba-enhancing medications | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:group a patients die in the first years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:group a patients die in the first years of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:group b, found in france and united kingdom, severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:group b, found in france and united kingdom, severe phenotype | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:hair, nails, and teeth are normal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hair, nails, and teeth are normal | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:health data repository:id:pt:repository:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:health data repository:id:pt:repository:nom | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:hearing loss and hoarseness occur later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss and hoarseness occur later | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:hearing loss is pre- or perilingual in onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss is pre- or perilingual in onset | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:hepatomegaly improves with age and disappears around puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hepatomegaly improves with age and disappears around puberty | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:heterozygotes are usually asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes are usually asymptomatic | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:heterozygous females may exhibit variable degrees of enzyme deficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous females may exhibit variable degrees of enzyme deficiency | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:high frequency in tibetan individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency in tibetan individuals | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:high frequency seizures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency seizures | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:high risk of recurrence after surgery n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high risk of recurrence after surgery | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:highly variable age at onset (range 9 to 69 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable age at onset (range 9 to 69 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:highly variable age at onset (range childhood to late adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:highly variable clinical and immunologic phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable clinical and immunologic phenotype | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:highly variable expression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable expression | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:highly variable frequency and duration of episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable frequency and duration of episodes | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:hyperpigmented patches increased in size and number with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hyperpigmented patches increased in size and number with age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:hypothyroidism is less severe in individuals with high dietary iodine intake n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hypothyroidism is less severe in individuals with high dietary iodine intake | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:hypotonia may respond to treatment with pyridostigmine n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hypotonia may respond to treatment with pyridostigmine | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:in general, men have more severe disease than women n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in general, men have more severe disease than women | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:in most cases capillary lesions are multifocal at birth and may increase in number with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in most cases capillary lesions are multifocal at birth and may increase in number with age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incidence - 1 in 25,000-100,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence - 1 in 25,000-100,000 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incidence 1/1,200-1/15,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1/1,200-1/15,000 live births | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incidence 1/100,000 - 1/200,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1/100,000 - 1/200,000 live births | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 1,000,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 1,000,000 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incidence of 1 in 480 among old order amish n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 480 among old order amish | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incidence ranges from 1 in 40,000 to 1 in 350,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incomplete age-dependent penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete age-dependent penetrance | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incomplete penetrance (range 13% to 77% by 50 years of age) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance (range 13% to 77% by 50 years of age) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:incomplete penetrance of the cardiac phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance of the cardiac phenotype | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased frequency among japanese and chinese n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency among japanese and chinese | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased frequency in ashkenazi jewish population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in ashkenazi jewish population | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased frequency in individuals of asian descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in individuals of asian descent | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased frequency in individuals originating from western scotland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in individuals originating from western scotland | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased frequency in persian jews (1:1,300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in persian jews (1:1,300) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased male to female ratio (7.5:1) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased male to female ratio (7.5:1) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased prevalence in northern finland (7.3/100,000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased prevalence in northern finland (7.3/100,000) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased risk of post-splenectomy thrombotic complications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased risk of post-splenectomy thrombotic complications | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased sensitivity to valproic acid toxicity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased sensitivity to valproic acid toxicity | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:increased susceptibility to neisseria infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased susceptibility to neisseria infections | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:infantile form has onset within first 6 months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infantile form has onset within first 6 months of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:infants show normal size and appearance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infants show normal size and appearance | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:intracellular accumulation of material can occur in neuronal and nonneuronal cells n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:intrafamilial phenotypic variation may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial phenotypic variation may occur | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:intrafamilial variability in degree of nail involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial variability in degree of nail involvement | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:late infantile onset 6-24 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late infantile onset 6-24 months | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:later onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset has been reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:later onset of ophthalmoparesis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset of ophthalmoparesis | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:left side involvement associated with serious cardiac defect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:left side involvement associated with serious cardiac defect | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:loss of independent walking by teenage years (in some) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:loss of independent walking by teenage years (in some) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:luton and torrance type differentiated based on histologic findings in cartilage n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:luton and torrance type differentiated based on histologic findings in cartilage | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:major fluid shifts may occur in severe cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:major fluid shifts may occur in severe cases | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:majority are isolated cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority are isolated cases | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:majority of cases diagnosed at age 10-15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases diagnosed at age 10-15 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:majority of cases in japan n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases in japan | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:majority of children die before age 2 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of children die before age 2 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:male patients have more severe disease than female patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male patients have more severe disease than female patients | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:males are most severely affected, but females can also be affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males are most severely affected, but females can also be affected | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:marked intrafamilial variability of clinical features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked intrafamilial variability of clinical features | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:may be asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be asymptomatic | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:may be due to imprinting defect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be due to imprinting defect | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:may fade with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may fade with age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:mean age at diagnosis 16 years (range 6 to 22) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at diagnosis 16 years (range 6 to 22) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:mean age of onset 31 years (range 5-60) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 31 years (range 5-60) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:mean age of onset 35-40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 35-40 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:mean duration of symptoms 4.2 plus or minus 2.4 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean duration of symptoms 4.2 plus or minus 2.4 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:median age at onset is 21 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age at onset is 21 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:median age of diagnosis - 15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age of diagnosis - 15 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:median age of onset of nail dystrophy - 7 years (range 1-6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:more common in ashkenazi jews n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more common in ashkenazi jews | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:mortality approximately 20% in first 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mortality approximately 20% in first 2 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most (80 to 90%) of cases result from deletions of the sts gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most (80 to 90%) of cases result from deletions of the sts gene | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most affected males die of respiratory failure within the first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most affected males die of respiratory failure within the first months of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most carrier females have mild mental retardation and subtle facial changes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most carrier females have mild mental retardation and subtle facial changes | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most cases do not have mutations in the mapt gene, but map to chromosome 17q n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most common form of congenital methemoglobinemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common form of congenital methemoglobinemia | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most common terminal deletion syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common terminal deletion syndrome | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most have resolution of symptoms between 6 and 12 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most have resolution of symptoms between 6 and 12 months | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most patients are clinically asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients are clinically asymptomatic | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most patients become wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients become wheelchair-bound | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most patients die in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die in childhood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most patients require liver transplantation within the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients require liver transplantation within the first year of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:most remit by 2 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most remit by 2 months | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:mother had rubella infection during pregnancy with daughter n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mother had rubella infection during pregnancy with daughter | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:motor fluctuations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:motor fluctuations | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:muscle symptoms precede cardiac symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:muscle symptoms precede cardiac symptoms | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:neonatal or infant death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal or infant death | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:neurologic dysfunction is infrequent and associated with delayed diagnosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:neuropathy becomes apparent in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neuropathy becomes apparent in childhood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:no phenotypic manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no phenotypic manifestations | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:no systemic manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no systemic manifestations | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:normal alleles contain 6 to 28 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal alleles contain 6 to 28 repeats | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:normal fertility n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal fertility | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:occurs in the absence of trauma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in the absence of trauma | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:occurs more frequently in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs more frequently in females | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:often diagnosed between ages 3-4 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often diagnosed between ages 3-4 months | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one chinese family has been reported (last curated october 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one chinese family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one consanguineous family has been reported (last curated may 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family has been reported (last curated may 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one consanguineous family has been reported (last curated november 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one consanguineous pakistani family has been reported (last curated june 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family has been reported (last curated june 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one consanguineous turkish family has been reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous turkish family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one family from hong kong has been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family from hong kong has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one family from punjab, india has been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family from punjab, india has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated august 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated august 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated march 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated march 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one family has been reported (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one family reported (as of may 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported (as of may 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one french family has been reported (as of march 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one french family has been reported (as of march 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one french family has been reported (last curated march 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one french family has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one of the 2 most common forms of oca in the world along with oca1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one of the 2 most common forms of oca in the world along with oca1 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one pakistani family has been reported (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one pakistani family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (as of august 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (as of august 2010) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated december 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one patient has been reported (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one patient reported (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient reported (last curated november 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one patient with a de novo mutation has been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with a de novo mutation has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:one report of mother and son (last curated august 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one report of mother and son (last curated august 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:only some patients showed neurologic involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:only some patients showed neurologic involvement | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset 6 to 18 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 6 to 18 months | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset 6-13 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 6-13 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset after third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset after third decade | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset age 15-25 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset age 15-25 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset age 20 to 51 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset age 20 to 51 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset between 2-5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 2-5 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset between 35-43 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 35-43 years of age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset between 7 and 18 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 7 and 18 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset between ages 5 and 15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between ages 5 and 15 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset between birth and 3 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between birth and 3 months of age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset by 1 year of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset by 1 year of age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset early childhood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in childhood (ages 1.5 to 7 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (ages 1.5 to 7 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in childhood, adolescence, and adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood, adolescence, and adulthood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in first decade (as early as infancy in some) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade (as early as infancy in some) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in first decade (range 1 to 7 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade (range 1 to 7 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in infancy (1-2 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy (1-2 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in infancy after weaning n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy after weaning | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in late adulthood (44 to 73 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late adulthood (44 to 73 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in mid-forties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in mid-forties | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in neonatal period or infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in neonatal period or infancy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in the 3rd decade of life or later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the 3rd decade of life or later | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in the first decade (range birth to 8 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the first decade (range birth to 8 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in the sixth or seventh decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the sixth or seventh decades | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset in young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in young adulthood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of acanthosis nigricans in childhood or by puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of acanthosis nigricans in childhood or by puberty | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of cardiac symptoms in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of cardiac symptoms in adolescence | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of chronic progressive polyneuropathy in late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of chronic progressive polyneuropathy in late childhood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of contractures in utero n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of contractures in utero | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of cough in early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of cough in early adulthood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of diabetes in teenage years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of diabetes in teenage years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of disease 3-30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease 3-30 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of disease around 10 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease around 10 years of age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of dystonia is in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of dystonia is in childhood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of illness often associated with acute infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of illness often associated with acute infection | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of motor disturbances in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of motor disturbances in childhood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of overgrowth in second to third month of life (in some cases) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of overgrowth in second to third month of life (in some cases) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of palmoplantar hyperkeratosis 7-8 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of palmoplantar hyperkeratosis 7-8 years of age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of parkinsonism in first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of parkinsonism in first decade | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of proteinuria in the second to fourth decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of proteinuria in the second to fourth decades | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of seizures between 2 and 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures between 2 and 5 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of spasticity by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of spasticity by age 2 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms between ages 3-8 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms between ages 3-8 years of age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in childhood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms in first decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in first decade of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset of symptoms usually between 12-15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms usually between 12-15 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset usually in early adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in early adolescence | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset usually in early childhood (but can range from infancy to adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in early childhood (but can range from infancy to adulthood) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:onset usually in early childhood, although ranges from birth to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in early childhood, although ranges from birth to adulthood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients become wheelchair-bound as adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients become wheelchair-bound as adults | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients between 30 and 60 years have discomfort with prolonged standing n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients between 30 and 60 years have discomfort with prolonged standing | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients can have als, ftd, or both n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients can have als, ftd, or both | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients can have multiple seizure types n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients can have multiple seizure types | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients do not exhibit ophthalmoplegia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients do not exhibit ophthalmoplegia | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients have normal pituitary function n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients have normal pituitary function | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients may become wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may become wheelchair-bound | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients of brazilian origin have a pure cerebellar atrophy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients of brazilian origin have a pure cerebellar atrophy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients often become wheelchair-bound 3 to 4 decades after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients often become wheelchair-bound 3 to 4 decades after onset | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:patients often require implantation of a pacemaker n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients often require implantation of a pacemaker | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:pedigrees compatible with autosomal dominant inheritance have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pedigrees compatible with autosomal dominant inheritance have been reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:persistent exposure to fructose leads to chronic liver and kidney complications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:persistent exposure to fructose leads to chronic liver and kidney complications | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with denys-drash syndrome (194080). n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with denys-drash syndrome (194080). | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:phenotypic overlap with fhm1 (141500) and sca6 (183086) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:plantar contractures become apparent with onset of ambulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:plantar contractures become apparent with onset of ambulation | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:predisposition to neoplasia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:predisposition to neoplasia | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prenatal diagnosis available n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prenatal diagnosis available | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prenatal onset or onset at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prenatal onset or onset at birth | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:present in jewish yemenite population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:present in jewish yemenite population | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:presents at birth or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presents at birth or early childhood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prevalence approximately 1 in 4,000 males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence approximately 1 in 4,000 males | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prevalence is estimated to be 1 in 150,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence is estimated to be 1 in 150,000 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 1,429 in tanzania n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 1,429 in tanzania | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prevalence of 1 in 40,000 to 1 in 80,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 40,000 to 1 in 80,000 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prevalence of 2-7% in english-speaking preschool children n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 2-7% in english-speaking preschool children | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prevalence rates average 10-20% of the general population over age 60 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence rates average 10-20% of the general population over age 60 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prevalent among the amish n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent among the amish | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prevalent in arabic, turkish, armenian, and sephardic jewish populations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:progresses to involve upper limbs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progresses to involve upper limbs | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:progressive disorder, usually with rapid, relentless course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive disorder, usually with rapid, relentless course | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:progressive neurologic deterioration if untreated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive neurologic deterioration if untreated | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:provoked by crying or emotional upset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:provoked by crying or emotional upset | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:range of onset 11 to 50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:range of onset 11 to 50 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:rapid disease progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapid disease progression | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:rapid progression to disability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapid progression to disability | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:rare disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rare disorder | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:reduced fertility n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced fertility | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:reduced life expectancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced life expectancy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:reduced penetrance in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced penetrance in females | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:relief is achieved by cooling or by elevating the extremities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relief is achieved by cooling or by elevating the extremities | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:renal dysfunction normalizes in the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:renal dysfunction normalizes in the first year of life | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:resource identifier:uri:pt:study:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:resource identifier:uri:pt:study:nom | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:respiratory distress may be precipitated by viral respiratory infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:respiratory distress may be precipitated by viral respiratory infection | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:responsive to thiazide diuretics n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:responsive to thiazide diuretics | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:risk of sudden death due to cardiac defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk of sudden death due to cardiac defects | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:scalp hair quality improves during pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:scalp hair quality improves during pregnancy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:secondary tumors develop within the skin lesions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:secondary tumors develop within the skin lesions | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see (608328) for a phenotypically similar autosomal dominant form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see (608328) for a phenotypically similar autosomal dominant form | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see 255160 for an autosomal recessive form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see 255160 for an autosomal recessive form | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see 609888 for a discussion on leprosy susceptibility n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see 609888 for a discussion on leprosy susceptibility | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see also autosomal dominant form (128230) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant form (128230) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see also autosomal recessive familial mediterranean fever (fmf, 249100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see also benign neonatal epilepsy (ebn1, 121200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also benign neonatal epilepsy (ebn1, 121200) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see also infantile (600649) and late-onset (255110) cpt ii deficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see also lethal neonatal (608836) and adult forms (255110) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also lethal neonatal (608836) and adult forms (255110) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see also pfm3 on chromosome 4q21-q23 (609566) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also pfm3 on chromosome 4q21-q23 (609566) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see also pseudohypoparathyroidism type ia (php1a, 103580) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see also recessive deb (226600), an allelic disorder with a more severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:seizure onset after 3 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizure onset after 3 months | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:seizure onset between 3 and 11 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizure onset between 3 and 11 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:seizures may be triggered by infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may be triggered by infection | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:seizures may improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may improve with age | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:seizures may persist into adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may persist into adulthood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:seven patients from 4 families in israel have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seven patients from 4 families in israel have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:several forms of autosomal recessive spastic paraplegia (see 270800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:several forms of autosomal recessive spastic paraplegia (see 270800) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe phenotype | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:significant clinical overlap with sotos syndrome (117550) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:significant clinical overlap with sotos syndrome (117550) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:significant phenotypic variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:significant phenotypic variability | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:simple febrile seizures usually remit by age 6 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:simple febrile seizures usually remit by age 6 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:skeletal abnormalities are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skeletal abnormalities are variable | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:skin lesions worsen with heat or sun exposure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesions worsen with heat or sun exposure | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:sleepwalking usually remits in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sleepwalking usually remits in adolescence | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some carrier females have mild features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some carrier females have mild features | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some families have axonal cmt (cmt2m) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some families have axonal cmt (cmt2m) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some features are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some features are variable | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some individuals may be clinically asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some individuals may be clinically asymptomatic | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some patients have a milder nonprogressive phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have a milder nonprogressive phenotype | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some patients have juvenile-onset myoclonic epilepsy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have juvenile-onset myoclonic epilepsy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some patients may live to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may live to adulthood | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some patients may respond to thiamine treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may respond to thiamine treatment | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some patients never achieve walking or running n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients never achieve walking or running | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:stable or slowly progressive course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stable or slowly progressive course | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:stage iv, late motor deterioration (when ambulation ceases) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stage iv, late motor deterioration (when ambulation ceases) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:stillbirth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stillbirth | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:sudden cardiac death in some families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden cardiac death in some families | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:sudden death secondary to impaction of medulla oblongata n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden death secondary to impaction of medulla oblongata | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:sudden infant death may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden infant death may occur | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:survival to 10 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survival to 10 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:symptoms precipitated by stress, exertion, fatigue, alcohol n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms precipitated by stress, exertion, fatigue, alcohol | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:symptoms precipitated by sudden movement, stress, exertion, fatigue n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:symptoms usually resolve without treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms usually resolve without treatment | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:symptoms vary according to location of tumor n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms vary according to location of tumor | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:three patients have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients have been reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:three unrelated families have been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:three unrelated families have been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:treatment with betaine, especially for pyridoxine nonresponders n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with betaine, especially for pyridoxine nonresponders | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:treatment with folinic acid offers some benefit for anemia and seizure control n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with folinic acid offers some benefit for anemia and seizure control | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:treatment with levodopa is not effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with levodopa is not effective | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:tremor is aggravated by emotional stress n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tremor is aggravated by emotional stress | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:twenty-five percent of affected babies are stillborn n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:twenty-five percent of affected babies are stillborn | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two families have been reported (as of curation date april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (as of curation date april 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two families reported (last curated september 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families reported (last curated september 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two patients from spain have been reported (as of january 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients from spain have been reported (as of january 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two peaks of onset, childhood and adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two peaks of onset, childhood and adult | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two subtypes, episodic (85% of patients) and chronic (15%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two subtypes, episodic (85% of patients) and chronic (15%) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated may 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated may 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated families have been reported (last curated november 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients had multiple congenital anomalies and died in early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients had multiple congenital anomalies and died in early infancy | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (as of august 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (as of august 2010) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated april 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated december 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:type 2a is characterized by deficiency of high molecular weight monomers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 2a is characterized by deficiency of high molecular weight monomers | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:type 2cb is characterized by defective binding affinity for collagen types i and iii n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:type b characterized by dementia, motor disturbances, and facial dyskinesia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:typically no physical features of albright hereditary osteodystrophy (aho) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:typically no physical features of albright hereditary osteodystrophy (aho) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:usual onset before age 6 years and death by age 20 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usual onset before age 6 years and death by age 20 | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:usual onset under age 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usual onset under age 30 years | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:usually follows a static course or is slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually follows a static course or is slowly progressive | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range 2 to 48 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 2 to 48 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range birth to 60 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range birth to 60 years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range first to fourth decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range first to fourth decade) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range teenage to adult years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range teenage to adult years) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable age at onset (range teens to late adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range teens to late adult) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable age at onset, early childhood to adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, early childhood to adult | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable age at onset, ranging from childhood to adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, ranging from childhood to adult | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable age of onset (20 to 35 years old) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (20 to 35 years old) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable disease course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable disease course | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable expression of features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expression of features | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable expressivity within a family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expressivity within a family | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable manifestations | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable penetrance | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable phenotype (range from completely female to males with mild undermasculinization) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype (range from completely female to males with mild undermasculinization) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable severity of brain malformations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity of brain malformations | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:variable severity, even within families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity, even within families | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:vasculitic symptoms are associated with cold exposure (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:vasculitic symptoms are associated with cold exposure (in some patients) | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:very few patients reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:very few patients reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:visual impairment is present at birth and is progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:visual impairment is present at birth and is progressive | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:waddling gait noted at age 15-20 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:waddling gait noted at age 15-20 months | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:weakness during pregnancy in some affected females has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:weakness during pregnancy in some affected females has been reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:wheelchair-bound average 12 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wheelchair-bound average 12 years after onset | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 32 / 0.744 -> en:younger onset rarely reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:younger onset rarely reported | rel=r_associated | relid=0 | w=32 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:'variant' form of x-linked cgd retains residual cytochrome b(-245) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:(1) classic severe (onset of symptoms 4 to 7 days of age) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:(1) infantile nephropathic (219800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:(1) infantile nephropathic (219800) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:25% due to mutations in ube3a (601623) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:25% due to mutations in ube3a (601623) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:94% develop hypertension at 18 years of age or less n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:94% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:99+% of the mutations are fgfr3, g380r (134934.0001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:99+% of the mutations are fgfr3, g380r (134934.0001) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:a wnt3 mutation has been identified in 1 affected family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a wnt3 mutation has been identified in 1 affected family | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:about 50% of mutation carriers are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 50% of mutation carriers are asymptomatic | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:about 50% of patients become wheelchair-bound at an average age of 37 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 50% of patients become wheelchair-bound at an average age of 37 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:about 8% of female mutation carriers develop dilated cardiomyopathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 8% of female mutation carriers develop dilated cardiomyopathy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:about half of patients report vestibular symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about half of patients report vestibular symptoms | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:accounts for <2% of patients with alzheimer's disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:accounts for <2% of patients with alzheimer's disease | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:acetazolamide is often effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acetazolamide is often effective | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:acquired sporadic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acquired sporadic disorder | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:acute attacks lasting 24-48 hours n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acute attacks lasting 24-48 hours | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:additional features are variably present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:additional features are variably present | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:adult onset (mean 30 years, range 5-60 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (mean 30 years, range 5-60 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:adult onset may also occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset may also occur | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:adults may be asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adults may be asymptomatic | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:affected males show onset of hematuria in first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected males show onset of hematuria in first year of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:affected, mild - 50-150 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected, mild - 50-150 repeats | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:affects 1 to 3% of the population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affects 1 to 3% of the population | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:age at onset 15 to 33 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset 15 to 33 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:age of onset between 20 to 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset between 20 to 30 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:age of onset between 6 to 10 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset between 6 to 10 years of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:age of onset varies ranging from 3 weeks to 22 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset varies ranging from 3 weeks to 22 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:alcohol may alleviate symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:alcohol may alleviate symptoms | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:all cases due to de novo mutation (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all cases due to de novo mutation (last curated february 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:all cases occur in a jewish religious isolate originally from cochin, india n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all cases occur in a jewish religious isolate originally from cochin, india | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:all patients have severe hearing loss 10 to 15 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all patients have severe hearing loss 10 to 15 years after onset | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to child syndrome (308050) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to child syndrome (308050) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic disorder to the zlotogora-ogur syndrome (225000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to the zlotogora-ogur syndrome (225000) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to acrocapitofemoral dysplasia (607778) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to acrocapitofemoral dysplasia (607778) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to autosomal recessive pxe (264800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to autosomal recessive pxe (264800) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to robinow syndrome, autosomal recessive (268310) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to robinow syndrome, autosomal recessive (268310) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to senior-loken syndrome 4 (606996) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to senior-loken syndrome 4 (606996) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic to usher syndrome, type id (601067) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to usher syndrome, type id (601067) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic with cone-rod dystrophy 10 (610283) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic with cone-rod dystrophy 10 (610283) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:allelic with retinitis pigmentosa 35 (610282) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic with retinitis pigmentosa 35 (610282) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:alpha-l-iduronidase activity is <1% for all forms of mps1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:ambulation is preserved n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ambulation is preserved | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:anemia is responsive to corticosteroid treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anemia is responsive to corticosteroid treatment | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:anemia is transfusion-dependent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anemia is transfusion-dependent | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:approximately 40% of cases are inherited or new germline mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 40% of cases are inherited or new germline mutations | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:associated with untreated phenylketonuria (261600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with untreated phenylketonuria (261600) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:attack frequency may occur several times per week to once per year n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attack frequency may occur several times per week to once per year | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:attacks may present during or after sleep n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:autonomic dysfunction usually precedes obvious neurologic deterioration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autonomic dysfunction usually precedes obvious neurologic deterioration | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive inheritance has been described in 2 families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance has been described in 2 families | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:autosomal recessive inheritance in one family (see 603342.0010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance in one family (see 603342.0010) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:average age at onset 19 years (range 5 to 38) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at onset 19 years (range 5 to 38) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:average age of onset 15 years (range 4 to 40) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age of onset 15 years (range 4 to 40) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:axial skeleton most commonly affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:axial skeleton most commonly affected | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on 2 men from 2 unrelated consanguineous iranian families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 men from 2 unrelated consanguineous iranian families | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on 2 siblings in 1 family (last curated september 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 siblings in 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on a report of 2 monozygotic twin girls (last curated october 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on a report of 2 monozygotic twin girls (last curated october 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on a report of 2 unrelated saudi patients (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on a report of 2 unrelated saudi patients (last curated september 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on one jordanian family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one jordanian family (last curated august 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on one large north american family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one large north american family (last curated august 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on report of 1 family (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 family (last curated october 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on report of 1 large dutch pedigree (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 large dutch pedigree (last curated july 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on report of 1 saudi arabian family (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 saudi arabian family (last curated february 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on report of 2 siblings and 1 patient (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 siblings and 1 patient (last curated december 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on report of 2 sibs in 2008 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 sibs in 2008 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:based on report of 2 unrelated patients (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 unrelated patients (last curated february 2016) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:both homozygous and heterozygous edn3 mutations have been found n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both homozygous and heterozygous edn3 mutations have been found | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:breech position n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:breech position | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:cardiac arrest and sudden death may occur, even in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cardiac arrest and sudden death may occur, even in early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:carrier females may show mild mental retardation or learning disabilities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females may show mild mental retardation or learning disabilities | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:cause of death usually due to respiratory failure before adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cause of death usually due to respiratory failure before adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:caused by inborn error in bile acid synthesis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by inborn error in bile acid synthesis | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:characteristic facial features become more apparent with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:characteristic facial features become more apparent with age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:characterized by calf weakness at onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:characterized by calf weakness at onset | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:childhood onset has been reported in 1 family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood onset has been reported in 1 family | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:childhood onset may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood onset may occur | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:childhood or adolescent onset (usually less than 25 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood or adolescent onset (usually less than 25 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:color vision defects may not be part of the phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:color vision defects may not be part of the phenotype | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:complementation groups - complementation group a (classic mliii, 252600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complementation groups - complementation group a (classic mliii, 252600) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:considered a benign disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:considered a benign disorder | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:considered to be a severe form of gaucher disease type ii (230900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:considered to be a severe form of gaucher disease type ii (230900) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:contiguous gene duplication syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contiguous gene duplication syndrome | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death about 20 years after symptom onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death about 20 years after symptom onset | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death by age 6-7 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death by age 6-7 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death in childhood may occur due to end-stage renal disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in childhood may occur due to end-stage renal disease | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death in early childhood may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in early childhood may occur | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death in the first decade, usually from liver failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in the first decade, usually from liver failure | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death may occur in the first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death may occur in the first decade | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death occurs 5 to 10 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death occurs 5 to 10 years after onset | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death occurs early in neonatal period due to respiratory failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death occurs early in neonatal period due to respiratory failure | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death often before age 2 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often before age 2 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death usually in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death usually in infancy due to respiratory failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in infancy due to respiratory failure | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:death within first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death within first year of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:diagnosis typically between age 10-20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis typically between age 10-20 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:diagnosis within the first 3 months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis within the first 3 months of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:disproportionately short limbs often noted at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disproportionately short limbs often noted at birth | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:earlier onset is associated with more aggressive disease course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:earlier onset is associated with more aggressive disease course | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:early death (mean age 13 months) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death (mean age 13 months) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:early death occurs in affected infants (days to months after disease onset) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death occurs in affected infants (days to months after disease onset) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:early death without bone marrow transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death without bone marrow transplantation | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:endocrine abnormalities confined to kidney n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:endocrine abnormalities confined to kidney | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:environmental triggers - cold and wet exposure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:environmental triggers - cold and wet exposure | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:episodes typically last 2 to 5 minutes and occur daily or several times per month n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:estimated frequency of 1 in 40,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated frequency of 1 in 40,000 live births | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:exacerbation at puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:exacerbation at puberty | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:expression more severe in females than males, except for mosaic males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:expression more severe in females than males, except for mosaic males | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:facial dysmorphism is age-related and alters substantially over time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:facial dysmorphism is age-related and alters substantially over time | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:facial palsy often transient in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:facial palsy often transient in infancy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:familial (10%) and isolated cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:familial (10%) and isolated cases | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:familial form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:familial form | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:fatigue n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatigue | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:favorable response of seizures to a ketogenic diet n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response of seizures to a ketogenic diet | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:favorable response to a ketogenic diet n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to a ketogenic diet | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:favorable response to antibodies against tnf-alpha (tnfa, 191160) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:favorable response to treatment with riboflavin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to treatment with riboflavin | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:features are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features are variable | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:features may be bilateral (15/24) or left side (9/24) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features may be bilateral (15/24) or left side (9/24) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:features occur episodically n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features occur episodically | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:females are more often affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:females are more often affected | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:fetal death may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fetal death may occur | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:five unrelated cases have been reported (as of march 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five unrelated cases have been reported (as of march 2012) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:four families have been reported (last curated june 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four families have been reported (last curated june 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:four patients from 3 families have been reported (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients from 3 families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:four types of cgd with basically identical clinical phenotypes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four types of cgd with basically identical clinical phenotypes | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:fracture frequency decreased post puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fracture frequency decreased post puberty | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:fractures occur in first few months, then decrease in frequency and then occur with ambulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:frequency between 1 in 58,000 to 1 in 1,000,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequency between 1 in 58,000 to 1 in 1,000,000 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:frequency of infections decreases after 3 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequency of infections decreases after 3 years of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic anticipation associated with progressive telomere shortening n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic anticipation associated with progressive telomere shortening | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see 161400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 161400) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see cftd1, 255310) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cftd1, 255310) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see cmt2b2, 605589) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cmt2b2, 605589) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see hcfp1, 601471) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see hcfp1, 601471) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity (see rieg2, 601499) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see rieg2, 601499) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see sca1 (164400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see sca1 (164400) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:good seizure control with medication n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good seizure control with medication | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:half (50%) of affected patients have a recurrent episode with worse outcome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:half (50%) of affected patients have a recurrent episode with worse outcome | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:haploinsufficiency of rps14 (130620) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:haploinsufficiency of rps14 (130620) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:hearing loss is nonprogressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss is nonprogressive | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:hearing loss may be stable or progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss may be stable or progressive | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:hearing loss typically begins between 3 and 4 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss typically begins between 3 and 4 years of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:hernia occurs in 22% of adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hernia occurs in 22% of adults | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:heterozygous mutation carriers may have late-onset of mild symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous mutation carriers may have late-onset of mild symptoms | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:heterozygous mutation present in 5-7% of the japanese population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous mutation present in 5-7% of the japanese population | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:high frequency in the french-canadian population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency in the french-canadian population | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:high prevalence among individuals of middle eastern or african descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high prevalence among individuals of middle eastern or african descent | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:high prevalence among individuals of portuguese descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high prevalence among individuals of portuguese descent | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:highly variable expressivity within families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable expressivity within families | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:highly variable intrafamilial expression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable intrafamilial expression | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:highly variable pathologic phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable pathologic phenotype | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:highly variable phenotype, some adults may be asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype, some adults may be asymptomatic | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:hypersensitivity to ionizing radiation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hypersensitivity to ionizing radiation | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:hyperthermia in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hyperthermia in early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:hypogonadism reported in a large swedish kindred n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hypogonadism reported in a large swedish kindred | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:improvement with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:improvement with age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:incidence 1 in 15,000-28,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1 in 15,000-28,000 births | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:incidence is less than 1 in 70,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence is less than 1 in 70,000 births | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 150,000 live births in the general population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 150,000 live births in the general population | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 40,000 infants worldwide n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 40,000 infants worldwide | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:incidence of 1 in 6,000 males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 6,000 males | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:incomplete penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:increased frequency in the finnish population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in the finnish population | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:increased paternal age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased paternal age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:increased prevalence in individuals of turkish descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased prevalence in individuals of turkish descent | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:increased risk of miscarriage n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased risk of miscarriage | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:individuals develop ability to stand and walk n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:individuals develop ability to stand and walk | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:individuals with the pcs trait are phenotypically normal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:individuals with the pcs trait are phenotypically normal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:infantile form usually leads to death by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infantile form usually leads to death by age 2 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:inheritance pattern is unclear n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:inheritance pattern is unclear | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:interfamilial and intrafamilial variability in severity of symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:interfamilial and intrafamilial variability in severity of symptoms | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:intermittent exacerbations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intermittent exacerbations | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:internal organ rupture may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:internal organ rupture may occur | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:juvenile absence epilepsy (jae, 607631) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:juvenile absence epilepsy (jae, 607631) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:juvenile form has onset between 4 and 19 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:juvenile form has onset between 4 and 19 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:juvenile-onset (before 15 years of age) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:juvenile-onset (before 15 years of age) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:last name:pn:pt:^guardian or legally authorized representative:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:last name:pn:pt:^guardian or legally authorized representative:nom | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:late-adult onset (range 50 to 80 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late-adult onset (range 50 to 80 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:later onset associated with milder severity has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset associated with milder severity has been reported | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:leigh syndrome, x-linked n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:leigh syndrome, x-linked | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:lesions are present at birth or become apparent in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lesions are present at birth or become apparent in infancy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:lesions grow and spread with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lesions grow and spread with age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:lethal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lethal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:liver enzymes decrease with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:liver enzymes decrease with age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:liver failure episodes cease in later childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:liver failure episodes cease in later childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:liver symptoms improve with age and disappear after puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:liver symptoms improve with age and disappear after puberty | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:majority of affected individuals are female (85%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of affected individuals are female (85%) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:majority of cases are sporadic, some autosomal dominant families have been described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases are sporadic, some autosomal dominant families have been described | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:majority of cases occur in brazilian population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases occur in brazilian population | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:majority of children die between 6 months and 5 yrs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of children die between 6 months and 5 yrs | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:majority of patients are stillborn or die before 5 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of patients are stillborn or die before 5 months of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:majority of patients develop symptoms within the first few weeks of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of patients develop symptoms within the first few weeks of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:males may be more affected than females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males may be more affected than females | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:males tend to have earlier onset than females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males tend to have earlier onset than females | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:many cases are sporadic, but somatic and germline mosaicism has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many cases are sporadic, but somatic and germline mosaicism has been reported | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:marked phenotypic variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked phenotypic variability | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:maternal breast milk is protective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:maternal breast milk is protective | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:maternal uniparental disomy (upd)7 reported in some cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:maternal uniparental disomy (upd)7 reported in some cases | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:may be same disorder as autosomal recessive optic atrophy 3 (258501) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:may regress in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may regress in adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:may respond to cholinesterase inhibitors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may respond to cholinesterase inhibitors | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:may respond to cholinesterase inhibitors of amifampridine n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may respond to cholinesterase inhibitors of amifampridine | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mean age at onset for variant cjd is 29 years (before age 45 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset for variant cjd is 29 years (before age 45 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mean age at onset of cerebellar ataxia is 52.8 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset of cerebellar ataxia is 52.8 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mean age of onset 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 30 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:medial onset of end stage renal disease 13 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:medial onset of end stage renal disease 13 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:median onset of proteinuria is 18 years (range 10 to 21) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median onset of proteinuria is 18 years (range 10 to 21) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:medullary thyroid cancer is aggressive and can occur in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:medullary thyroid cancer is aggressive and can occur in childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:midline defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:midline defects | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mild features such as digital clubbing may be apparent in older heterozygotes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild features such as digital clubbing may be apparent in older heterozygotes | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mode of inheritance is uncertain n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mode of inheritance is uncertain | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most patients become wheelchair-bound in adolescence or as young adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients become wheelchair-bound in adolescence or as young adults | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most patients die in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die in infancy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most patients have no bleeding abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients have no bleeding abnormalities | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most patients remain ambulatory in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients remain ambulatory in adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most patients require liver transplant in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients require liver transplant in childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most pregnancies with affected fetuses resulted in elective termination n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most pregnancies with affected fetuses resulted in elective termination | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:most retain independent ambulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most retain independent ambulation | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:murcs association n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:murcs association | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mutation found in 1 puerto rican family (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation found in 1 puerto rican family (last curated august 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mutation in npr2 results in gain-of-function n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation in npr2 results in gain-of-function | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:mutation in the hcrt gene has been identified in 1 patient n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation in the hcrt gene has been identified in 1 patient | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:myoclonic seizures occur on awakening or within 2 hours of awakening n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:myoclonic seizures occur on awakening or within 2 hours of awakening | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:neonatal death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal death | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:neonatal/infantile death in most patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal/infantile death in most patients | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:neurologic features are variable and not progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic features are variable and not progressive | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:neurologic signs onset during adolescence or young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic signs onset during adolescence or young adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:neurologic symptoms are not always present or may appear late n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic symptoms are not always present or may appear late | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:no abdominal symptoms or neurologic symptoms in harderoporphyria n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:no clinical description given for 1 reported patient (last curated december 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no clinical description given for 1 reported patient (last curated december 2013) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:no clinical details provided by the authors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no clinical details provided by the authors | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:no male-to-male transmission n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no male-to-male transmission | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:no situs inversus n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no situs inversus | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:nonsyndromic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonsyndromic | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:normal alleles have 4 to 18 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal alleles have 4 to 18 repeats | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:normal development between episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal development between episodes | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:not all nails are affected in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:not all nails are affected in some patients | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:occurs much more commonly in women n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs much more commonly in women | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:oculomotor apraxia is not always present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:oculomotor apraxia is not always present | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:often associated with syringomyelia (186700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often associated with syringomyelia (186700) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one amish family has been reported (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one amish family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one boy and 5 unrelated girls have been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one boy and 5 unrelated girls have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one chinese family has been reported (as of august 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one chinese family has been reported (as of august 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one chinese family with a confirmed mutation has been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one chinese family with a confirmed mutation has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one compound heterozygous patient reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one compound heterozygous patient reported (last curated february 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one consanguineous family has been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one consanguineous family has been reported (last curated may 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family has been reported (last curated may 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one consanguineous pakistani family has been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one consanguineous turkish family has been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous turkish family has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one family has been reported (as of june 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of june 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one family has been reported (as of september 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of september 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one family has been reported (last curated december 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated december 2013) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one family of french-canadian origin has been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family of french-canadian origin has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one family of french-canadian origin has been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family of french-canadian origin has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one family reported (last curated november 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported (last curated november 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one family reported (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported (last curated november 2013) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (as of march 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (as of march 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (as of may 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (as of may 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated april 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient has been reported (last curated may 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient was asymptomatic and detected by neonatal screening n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient was asymptomatic and detected by neonatal screening | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one patient with a homozygous mutation has been reported (as of 14 june 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:one swedish patient has been reported (last curated november 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one swedish patient has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:only women have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:only women have been reported | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset - present at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset - present at birth | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset 70-90 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 70-90 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset and diagnosis may occur later (after age 20 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset and diagnosis may occur later (after age 20 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset around puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset around puberty | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset as neonate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset as neonate | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset at 4 to 10 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at 4 to 10 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset at birth or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at birth or early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset at birth or in first days or life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at birth or in first days or life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset before 18 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before 18 months of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset before adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before adolescence | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset before age 20 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before age 20 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset between 28-32 weeks of gestation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 28-32 weeks of gestation | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset between 6 and 16 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 6 and 16 years of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset birth to early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset birth to early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset from first to third decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset from first to third decades of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in adolescence to early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in adolescence to early adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in childhood (range 0.5 to 7 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (range 0.5 to 7 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in childhood (range 1 to 9 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (range 1 to 9 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in childhood or adolescence (range 6 to 15 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or adolescence (range 6 to 15 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in early childhood (infancy to age 7 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early childhood (infancy to age 7 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in early first decade, although some patients have onset at birth or early in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early first decade, although some patients have onset at birth or early in infancy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in feet and legs (peroneal distribution) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in first decade (birth to age 5 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade (birth to age 5 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in first or second decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first or second decades | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in late teens to early forties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late teens to early forties | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in mid-adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in mid-adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in teens or early twenties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in teens or early twenties | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in teens to 20's n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in teens to 20's | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in the first or second decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the first or second decades of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset in third or fourth decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in third or fourth decades | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of arthritis in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of arthritis in early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of ataxia and neuropathy in early twenties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of ataxia and neuropathy in early twenties | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of ataxia in the fifties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of ataxia in the fifties | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of autoinflammation in infancy or first few years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of autoinflammation in infancy or first few years of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of clinical features around puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of clinical features around puberty | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of dilated cardiomyopathy less than 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of dilated cardiomyopathy less than 3 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of disease within the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease within the first year of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of end-stage renal disease 15 to 20 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of end-stage renal disease 15 to 20 years after onset | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of gastrointestinal tumors typically occurs in the second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of gastrointestinal tumors typically occurs in the second decade | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of hearing loss prior to or during adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss prior to or during adolescence | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of hypoglycemia and hyperinsulinism in the neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of neurologic events can occur between 4 and 35 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of neurologic events can occur between 4 and 35 years of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of optic neuropathy is usually in early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of optic neuropathy is usually in early adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of scoliosis as early as 2 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of scoliosis as early as 2 years of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of seizures in infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures in infancy or early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of sensory neuropathy in later adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of sensory neuropathy in later adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of symptoms in second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in second decade of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of symptoms within the first 2 decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms within the first 2 decades of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of thrombocytopenia in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of thrombocytopenia in early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset of tumors usually in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of tumors usually in adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset ranges from 2 days to 7 months (most at 2-3 months) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset ranges from 2 days to 7 months (most at 2-3 months) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset ranges from first to third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset ranges from first to third decade | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually at birth, but may occur later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually at birth, but may occur later | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually before age 10 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually before age 10 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually before age 40 years (range 15 to 55) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually before age 40 years (range 15 to 55) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually in adulthood although childhood onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in adulthood although childhood onset has been reported | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually in childhood (range 17 months to 39 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in childhood (range 17 months to 39 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually in first or second decade (mean 10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in first or second decade (mean 10 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually in second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in second decade | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually in the first 4 years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in the first 4 years of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:onset usually in the first decade (range 0.8 to 5 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in the first decade (range 0.8 to 5 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:overall course less severe compared to patients with cfh (134370) mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:overall course less severe compared to patients with cfh (134370) mutations | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:overlapping features with barber-say syndrome (209885) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:overlapping features with barber-say syndrome (209885) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:pain most commonly affects the trunk, extremities, pelvic region, buttocks n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:partial factor viii deficiency in heterozygous carriers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:partial factor viii deficiency in heterozygous carriers | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:pathogenic alleles have 19 to 33 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pathogenic alleles have 19 to 33 repeats | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patient b had a more severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patient b had a more severe phenotype | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patient satisfaction with healthcare delivery:score:pt:^patient:qn n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patient satisfaction with healthcare delivery:score:pt:^patient:qn | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patients achieve ambulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients achieve ambulation | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patients can be divided into 2 groups based on whether typical hand anomalies are present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patients do not have clinical hypothyroidism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients do not have clinical hypothyroidism | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patients may be asymptomatic, but are at risk for metabolic decompensation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may be asymptomatic, but are at risk for metabolic decompensation | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patients may become ventilator-dependent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may become ventilator-dependent | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patients may require implantable cardioverter defibrillators n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may require implantable cardioverter defibrillators | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patients with later onset have better prognosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with later onset have better prognosis | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:patients with the autosomal recessive disorder have a more severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with the autosomal recessive disorder have a more severe phenotype | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:pectus carinatum present in obligate carrier mothers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pectus carinatum present in obligate carrier mothers | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:penetrance of disease is complete between 30 and 40 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:penetrance of disease is complete between 30 and 40 years of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:perinatal lethal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:perinatal lethal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:persistence of febrile seizures beyond age 6 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:persistence of febrile seizures beyond age 6 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:phenotypic variation (may affect language expression, reception, and/or articulation) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic variation (may affect language expression, reception, and/or articulation) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:pigmentary abnormalities apparent at birth or in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pigmentary abnormalities apparent at birth or in infancy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:precipitated by fever n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitated by fever | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prelingual onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prelingual onset | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:preponderance of affected females (80%) to males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:preponderance of affected females (80%) to males | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prevalence estimated at 1 in 86,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence estimated at 1 in 86,000 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prevalence in the finnish population of 5.8 per million n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence in the finnish population of 5.8 per million | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prevalence much higher in whites than blacks n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence much higher in whites than blacks | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prevalence of 0.5 to 1 in 1,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 0.5 to 1 in 1,000 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 150 to 1 in 1,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 150 to 1 in 1,000 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 40,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 40,000 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prevalence of 1 in 40,000 among caucasians n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 40,000 among caucasians | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prevalence of essential tremor ranges from 0.4 to 6% in the general population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:prevalent among patients of asian descent, particularly japanese n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent among patients of asian descent, particularly japanese | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:progressive disease with onset in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive disease with onset in infancy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:progressive disorder regarding both neurologic and renal symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive disorder regarding both neurologic and renal symptoms | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:protracted disease course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:protracted disease course | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:rapid disease progression from ages 40 to 50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapid disease progression from ages 40 to 50 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:rare autosomal dominant inheritance has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rare autosomal dominant inheritance has been reported | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:rare patients with homozygous null mutations have most severe disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rare patients with homozygous null mutations have most severe disease | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:rash, edema, and arthralgia may occur during crisis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rash, edema, and arthralgia may occur during crisis | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:recurrent bacterial infections with onset in the first or second year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent bacterial infections with onset in the first or second year of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:reduced longevity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced longevity | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:relatively mild course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relatively mild course | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:reported in a large hutterite family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported in a large hutterite family | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:reported in individuals of jewish moroccan ancestry n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported in individuals of jewish moroccan ancestry | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:responsive to oral mannose therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:responsive to oral mannose therapy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:rickets and premature primary tooth loss occur in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rickets and premature primary tooth loss occur in childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:risk of sudden death due to cardiac arrhythmias n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk of sudden death due to cardiac arrhythmias | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:risk of sudden death in childhood due to cardiac arrest n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk of sudden death in childhood due to cardiac arrest | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also adult-onset stiff person syndrome (184850) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also adult-onset stiff person syndrome (184850) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also autosomal dominant sick sinus syndrome (163800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant sick sinus syndrome (163800) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also chromosome 2q32-q33 deletion syndrome (612313) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also chromosome 2q32-q33 deletion syndrome (612313) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also cmtx1 (302800) and cmt3x (302802) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also cmtx1 (302800) and cmt3x (302802) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also french-canadian type of leigh syndrome (220111) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also french-canadian type of leigh syndrome (220111) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also griscelli syndrome type 1 (214450) for a similar disorder without immunological abnormalities and griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also griscelli syndrome type 1 (214450) for a similar disorder without immunological abnormalities and griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also more severe phenotype peeling skin syndrome (270300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also more severe phenotype peeling skin syndrome (270300) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:seizures and cognitive involvement are variable findings n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures and cognitive involvement are variable findings | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:seizures are fever-sensitive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are fever-sensitive | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:seizures are provoked by immersion in hot or warm water n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are provoked by immersion in hot or warm water | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:seizures are responsive to pyridoxine treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are responsive to pyridoxine treatment | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:seizures remit in later childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures remit in later childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:seizures tend to become more focal with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures tend to become more focal with age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:seizures usually remit in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures usually remit in adolescence | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:seven patients reported (as of march 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seven patients reported (as of march 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:severe ambulatory restriction n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe ambulatory restriction | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:severe epilepsy may lead to early death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe epilepsy may lead to early death | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:severe infantile cases usually die by 6 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe infantile cases usually die by 6 months | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:severe volume depletion n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe volume depletion | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:similar to infantile neuroaxonal dystrophy (inad, 256600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:slow course of functional deterioration compared to severity of mri findings n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slow course of functional deterioration compared to severity of mri findings | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:slow or nonprogressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slow or nonprogressive | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some features not found in all patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some features not found in all patients | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some female carriers are more mildly affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some female carriers are more mildly affected | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some laboratory abnormalities may fluctuate or improve with time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some laboratory abnormalities may fluctuate or improve with time | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some more severely affected patients may die in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some more severely affected patients may die in infancy | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients can be treated with large doses of vitamin d and calcium n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients can be treated with large doses of vitamin d and calcium | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients do not develop renal failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients do not develop renal failure | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients have a secreted but biologically inactive mutant leptin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have a secreted but biologically inactive mutant leptin | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients have additional neurologic involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have additional neurologic involvement | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients have no neurologic abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have no neurologic abnormalities | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients have no or mild manifestations and normal development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have no or mild manifestations and normal development | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients may have a more protracted disorder with neurodegeneration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may have a more protracted disorder with neurodegeneration | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients may show normal early development before seizure onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may show normal early development before seizure onset | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients respond to acetazolamide n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients respond to acetazolamide | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients show improvement during summer or with fever n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show improvement during summer or with fever | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients show no bleeding abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show no bleeding abnormalities | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients show significant clinical improvement with riboflavin supplementation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show significant clinical improvement with riboflavin supplementation | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:some patients with heterozygous mutations may be symptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients with heterozygous mutations may be symptomatic | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:spasticity occurs before parkinsonism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spasticity occurs before parkinsonism | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:spontaneous resolution by 12 months of age with no recurrence later in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneous resolution by 12 months of age with no recurrence later in life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:subtle personality and behavioral changes are presenting signs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subtle personality and behavioral changes are presenting signs | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:subtype 3c (231005) comprises cardiovascular calcifications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subtype 3c (231005) comprises cardiovascular calcifications | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:sudden death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden death | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:survival greater than one year rare n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survival greater than one year rare | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:survivors may develop renal insufficiency and hepatic dysfunction n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survivors may develop renal insufficiency and hepatic dysfunction | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptom onset ranges from infancy to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptom onset ranges from infancy to adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptoms appear in early childhood and are progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms appear in early childhood and are progressive | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptoms are responsive to cobalamin treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms are responsive to cobalamin treatment | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptoms occur only during sleep n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms occur only during sleep | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptoms present as acute metabolic and clinical decompensation associated with infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms present as acute metabolic and clinical decompensation associated with infection | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptoms tend to improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms tend to improve with age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptoms typically begin in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms typically begin in childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptoms usually appear in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms usually appear in adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:symptoms usually induced only by strenuous exercise n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms usually induced only by strenuous exercise | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:temperature instability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:temperature instability | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:thoracic abnormalities tend to improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:thoracic abnormalities tend to improve with age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:three families described (last curated january 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families described (last curated january 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:three families have been reported (as of 28 june 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families have been reported (as of 28 june 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:three girls from 2 unrelated families have been reported (last curated june 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three girls from 2 unrelated families have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:three patients from 1 mexican family has been reported (last curated april 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients from 1 mexican family has been reported (last curated april 2013) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:three unrelated families have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:three unrelated patients have been reported (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:toe-walking gait n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:toe-walking gait | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:trauma, im injection, surgery can be foci of ectopic ossification n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:trauma, im injection, surgery can be foci of ectopic ossification | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:tremors develop after seizures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tremors develop after seizures | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two autosomal dominant families have been reported (as of may 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two autosomal dominant families have been reported (as of may 2011) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two families have been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two families have been reported (september 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (september 2010) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two loci described - eec1 (129900) and eec3 (604292) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two loci described - eec1 (129900) and eec3 (604292) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two pakistani families have been reported (last curated december 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two pakistani families have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two pakistani families reported (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two pakistani families reported (last curated july 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two sibs and an unrelated fetus have been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs and an unrelated fetus have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two sibs died before 2 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs died before 2 years of age | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two sibs have been reported (last curated may 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two sibs have been reported (last curated november 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs have been reported (last curated november 2012) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two subtypes noninflammatory type a and inflammatory type b n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two subtypes noninflammatory type a and inflammatory type b | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated june 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two unrelated families have been reported (last curated may 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two unrelated patients have been reported (last curated march 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated march 2014) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:type i has most severe manifestations by age 4-5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type i has most severe manifestations by age 4-5 years | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:type i is infantile-onset, severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type i is infantile-onset, severe | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:typical attacks last from seconds to minutes, but longer occurrences have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:uncommon and rare features seen in the most severely affected patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:uncommon and rare features seen in the most severely affected patients | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:up to 50% of patients may have various additional congenital anomalies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:up to 50% of patients may have various additional congenital anomalies | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:upper limb involvement occur later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:upper limb involvement occur later | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:usually a manifestation of the carney complex (cnc1, 1609890) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually a manifestation of the carney complex (cnc1, 1609890) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:usually fatal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually fatal | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:usually occurs in young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually occurs in young adulthood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:usually poor response to steroid treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually poor response to steroid treatment | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:usually sporadic disorder resulting from de novo 22q11.2 deletion n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (birth to adolescence) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (birth to adolescence) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (birth to adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (birth to adult) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (late childhood to adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (late childhood to adult) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range 2 to 59 years, mean 24 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 2 to 59 years, mean 24 years) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range 4 to 40 years, mostly in first or second decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable age at onset (range first to third decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range first to third decade) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable age at onset, from birth to ninth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, from birth to ninth decade | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable age at onset, from first decade to fourth or fifth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, from first decade to fourth or fifth decade of life | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable age of onset of parkinsonism (first decade to adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset of parkinsonism (first decade to adulthood) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable clinical presentation ranging from acute onset to normal adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable clinical presentation ranging from acute onset to normal adult | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable expression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expression | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable features | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable frequency and duration of episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable frequency and duration of episodes | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable involvement of hematologic parameters n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable involvement of hematologic parameters | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable manifestation of features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable manifestation of features | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable neurologic phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable neurologic phenotype | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable penetrance of these features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable penetrance of these features | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable phenotype depending on residual enzyme activity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype depending on residual enzyme activity | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable presentation and evolution of symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable presentation and evolution of symptoms | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variable severity, ranging from central severe to peripheral to transient n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity, ranging from central severe to peripheral to transient | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:variation in slc24a5 has also been associated with variation in skin color (shep4) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:visual symptoms present by late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:visual symptoms present by late childhood | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:waddling gait, often presenting sign in second year n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:waddling gait, often presenting sign in second year | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:worldwide frequency of 1 in 100,000 infants n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:worldwide frequency of 1 in 100,000 infants | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 31 / 0.721 -> en:worldwide prevalence of 1/100,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:worldwide prevalence of 1/100,000 | rel=r_associated | relid=0 | w=31 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:(5) dihydrolipoyl dehydrogenase (e3)-deficient n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:13% of cases secondary to familial translocation (often maternally derived) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:13% of cases secondary to familial translocation (often maternally derived) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:20-40% patients are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:20-40% patients are asymptomatic | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:40 patients in 16 dominant kindreds reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:40 patients in 16 dominant kindreds reported (as of february 2012) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:75% of affected individuals are female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:75% of affected individuals are female | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:80% cases new mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:80% cases new mutations | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:87% patients are female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:87% patients are female | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:a severe infantile variant has been rarely reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a severe infantile variant has been rarely reported | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:a subset of patients have heterozygous mutations, which may predispose to disease development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a subset of patients have heterozygous mutations, which may predispose to disease development | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:about 10% of patients have a severe early onset in the first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 10% of patients have a severe early onset in the first months of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:about 20% of female mutation carriers may show mild muscle weakness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 20% of female mutation carriers may show mild muscle weakness | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:about 50% of patients have intellectual disability and/or hydrocephalus n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 50% of patients have intellectual disability and/or hydrocephalus | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:acanthosis nigricans fades during adolescence and reappears in pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:acute episodes decrease with age and disappear n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acute episodes decrease with age and disappear | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:adolescent or adult onset associated with neuropsychiatric symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adolescent or adult onset associated with neuropsychiatric symptoms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:adult onset of muscle symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset of muscle symptoms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:adult onset, usually 30's to 40's, but up to early 60's n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset, usually 30's to 40's, but up to early 60's | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:adult-onset in third to fourth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult-onset in third to fourth decade | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:affects between 1 in 200 to 1 in 400 individuals of northern european descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:age at death:time:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at death:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:age at onset can range from infancy to childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset can range from infancy to childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:age:time:pt:^patient:qn:estimated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age:time:pt:^patient:qn:estimated | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:age:time:pt:^patient:qn:reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age:time:pt:^patient:qn:reported | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:aggravated by physical activity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:aggravated by physical activity | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:aggressive malignancies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:aggressive malignancies | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:all cases sporadic (18 males, 7 females) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all cases sporadic (18 males, 7 females) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:all reported patients are female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all reported patients are female | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to ifap syndrome (308205) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to ifap syndrome (308205) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to margarita island type of ectodermal dysplasia (225060) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to schindler disease (609241) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to schindler disease (609241) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to infantile sialic acid storage disorder (269920) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to infantile sialic acid storage disorder (269920) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to leopard syndrome (151100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to leopard syndrome (151100) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to mucolipidosis ii (252500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to mucolipidosis ii (252500) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to waardenburg syndrome, type iia (193510) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to waardenburg syndrome, type iia (193510) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:alopecia may spontaneously regress, become chronic, or spread diffusely n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:alopecia may spontaneously regress, become chronic, or spread diffusely | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:anemia may show onset in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anemia may show onset in infancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:approximately 50% of patients have situs inversus n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 50% of patients have situs inversus | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:approximately 60% of cases are due to somatic mutations and are unilateral n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 60% of cases are due to somatic mutations and are unilateral | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:approximately 70-80% of cases are de novo and sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 70-80% of cases are de novo and sporadic | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:approximately half of patients need ambulatory support after the fifth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately half of patients need ambulatory support after the fifth decade | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:arthralgia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:arthralgia | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:as of 2009, one family has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:as of 2009, one family has been reported | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:assisted ambulation or wheelchair-dependent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:assisted ambulation or wheelchair-dependent | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:associated with hemodialysis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with hemodialysis | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:asymptomatic patients may show changes on sd-oct n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:asymptomatic patients may show changes on sd-oct | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:asymptomatic skin lesions begin on neck in third decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:asymptomatic skin lesions begin on neck in third decade of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:attacks tend to decrease with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks tend to decrease with age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:autosomal recessive cases have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive cases have been reported | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:autosomal recessive cytochrome b-positive cgd, type i n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive cytochrome b-positive cgd, type i | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:autosomal recessive form (240220) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive form (240220) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:autosomal recessive inheritance with earlier onset has been reported in 3 patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:autosomal recessive inheritance with earlier onset has been suggested n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance with earlier onset has been suggested | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:based on 1 family (last curated september 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 family (last curated september 2012) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:based on detailed clinical description of 1 family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on detailed clinical description of 1 family | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:based on one italian family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one italian family (last curated august 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:based on report of 1 family (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 family (last curated february 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:based on report of 1 family (last curated january 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 family (last curated january 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:based on report of 2 sisters (last curated october 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 sisters (last curated october 2012) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:based on report of 2 unrelated patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 unrelated patients | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:based on report of a hispanic mother and son (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of a hispanic mother and son (last curated february 2016) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:based on report of one consanguineous kuwaiti family (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:bleeding episodes occur early in life and may disappear with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bleeding episodes occur early in life and may disappear with age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:blistering becomes confined to the palms and soles with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:blistering becomes confined to the palms and soles with age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:blistering tends to improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:blistering tends to improve with age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:body habitus becomes apparent in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:body habitus becomes apparent in childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:can be categorized into 3 groups n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:can be categorized into 3 groups | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:capillary malformation are apparent at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:capillary malformation are apparent at birth | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:cardiomyopathy is not a feature n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cardiomyopathy is not a feature | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:carrier females may have mild intellectual disability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females may have mild intellectual disability | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:carrier frequency in finland is 1 in 230 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier frequency in finland is 1 in 230 | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:cataract evident at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cataract evident at birth | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:cataracts develop by second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cataracts develop by second decade of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:caused by a defect in bile acid transport n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by a defect in bile acid transport | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:changes more marked in hands than feet n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:changes more marked in hands than feet | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:childhood onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood onset has been reported | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:clinical severity varies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical severity varies | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:clinical variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical variability | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:clinically classified into classic, atypical, and intermediate phenotypes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinically classified into classic, atypical, and intermediate phenotypes | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:clonidine can alleviate hyperhidrosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clonidine can alleviate hyperhidrosis | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:cold temeratures exacerbate symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cold temeratures exacerbate symptoms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:cold-induced sweating develops late in the first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cold-induced sweating develops late in the first decade | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:comprises several subtypes, including n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:comprises several subtypes, including | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:congenital onset or onset before 2 years (prelingual) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital onset or onset before 2 years (prelingual) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:contiguous gene deletion syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:continuing ovulation and implantation after initiation of another pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:continuing ovulation and implantation after initiation of another pregnancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:corrected by bone marrow transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:corrected by bone marrow transplantation | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:de novo mutation in heterozygotes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:de novo mutation in heterozygotes | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:death in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:death in infancy (patient b) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy (patient b) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:death in infancy secondary to pulmonary insufficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:death in infancy without bone marrow transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy without bone marrow transplantation | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:death in utero or as neonate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in utero or as neonate | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:death in utero or in early infancy is common n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in utero or in early infancy is common | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:death in utero or in the perinatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in utero or in the perinatal period | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:death may occur in late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death may occur in late childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:death usually within first weeks of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually within first weeks of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:defect in tetrahydrobiopterin (bh4) synthesis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:defect in tetrahydrobiopterin (bh4) synthesis | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:described in 6 japanese families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:described in 6 japanese families | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:described in individuals of roma gypsy origin (founder mutation) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:described in individuals of roma gypsy origin (founder mutation) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:described in one 5-generation pakistani family (last curated april 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:described in one 5-generation pakistani family (last curated april 2013) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:described predominantly in families from the philippines n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:described predominantly in families from the philippines | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:diabetes diagnosed in second or third decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diabetes diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:diagnosis in seventh decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis in seventh decade of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:diagnosis in the second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis in the second decade of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:diarrhea worsens in parallel with increases in severity of skin disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diarrhea worsens in parallel with increases in severity of skin disease | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:difficulty walking n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:difficulty walking | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:disease complicated by recurrent sepsis in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disease complicated by recurrent sepsis in some patients | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:disease course depends on age at onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disease course depends on age at onset | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:disease is nonprogressive in most patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disease is nonprogressive in most patients | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:disease steadily progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disease steadily progressive | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:disorder becomes apparent around age 2 years when patients begin to walk n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disorder becomes apparent around age 2 years when patients begin to walk | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:diurnal fluctuation of symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diurnal fluctuation of symptoms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:due to lack of epidermal ridging, patients lack fingerprints n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:due to lack of epidermal ridging, patients lack fingerprints | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:earlier onset associated with faster progression and shorter life span n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:earlier onset associated with faster progression and shorter life span | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:earlier onset is associated with a more severe disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:earlier onset is associated with a more severe disorder | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:early death (usually by 3 years of age) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death (usually by 3 years of age) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:early death from infection may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death from infection may occur | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:early death in early adulthood often associated with diverticulitis and intestinal perforation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:early death in some patients due to cardiorespiratory involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death in some patients due to cardiorespiratory involvement | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:early death may occur due to infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death may occur due to infection | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:early death, usually before age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death, usually before age 2 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:echocardiogram and ophthalmologic examination normal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:echocardiogram and ophthalmologic examination normal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:episodes are followed by exhaustion and sleep n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes are followed by exhaustion and sleep | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:episodes are triggered by hunger, fatigue, cold, stress n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes are triggered by hunger, fatigue, cold, stress | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:episodes brought on by fasting or infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes brought on by fasting or infection | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:erythema accompanied by stinging or burning sensation in some cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:erythema accompanied by stinging or burning sensation in some cases | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:excessive posttraumatic blood loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:excessive posttraumatic blood loss | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:exercise intolerance often evident in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:exercise intolerance often evident in childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:extreme variability in severity of features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:extreme variability in severity of features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:fat pads become less prominent with time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fat pads become less prominent with time | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:fatal outcome if untreated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatal outcome if untreated | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:favorable response to alcohol n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to alcohol | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:favorable response to anticholinesterase medication n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to anticholinesterase medication | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:favorable response to cholinesterase inhibitors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to cholinesterase inhibitors | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:favorable response to intermittent, low-dose steroid therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to intermittent, low-dose steroid therapy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:favorable response to treatment with cholinesterase inhibitors or amifampridine n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to treatment with cholinesterase inhibitors or amifampridine | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:favorable response to treatment with minocycline or azithromycin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to treatment with minocycline or azithromycin | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:feeding difficulties in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:feeding difficulties in infancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:female carriers exhibit short stature n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers exhibit short stature | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:females may be unaffected or mildly affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:females may be unaffected or mildly affected | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:few familial (parent offspring) cases reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:few familial (parent offspring) cases reported | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:five clinical variants of msud unassociated with genotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five clinical variants of msud unassociated with genotype | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:four families have been reported (last curated october 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four families have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:four patients from 2 unrelated families have been reported (last curated april 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients from 2 unrelated families have been reported (last curated april 2013) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:four patients have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients have been reported | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:four patients have been reported (as of july 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:four patients have been reported (last curated june 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients have been reported (last curated june 2013) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:four unrelated patients have been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated patients have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:four unrelated patients reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated patients reported (last curated august 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:fracture frequency constant through childhood, decreases after puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fracture frequency constant through childhood, decreases after puberty | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:fractures often heal without deformity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fractures often heal without deformity | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:frequency of attacks may decrease with age or during pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequency of attacks may decrease with age or during pregnancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:gait abnormality n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gait abnormality | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:generally considered to be a benign disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:generally considered to be a benign disorder | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (bor2, 610896) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (bor2, 610896) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 161800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 161800) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 166600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 166600) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 209850) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 209850) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see 608638) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 608638) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see cmt1b 118200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cmt1b 118200) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see cmt4b1, 601382) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cmt4b1, 601382) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see etl2, 608096) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see etl2, 608096) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see hhf1 256450) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see hhf1 256450) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see lqt1 192500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see lqt1 192500) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see ofc1, 119530) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see ofc1, 119530) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see pfm1, 168500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see pfm1, 168500) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity of axonal cmt (see cmt2a 118210) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity, see apmr1 (203650) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see apmr1 (203650) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity, see mgr1 (157300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see mgr1 (157300) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:genetic heterogeneity, see ppnad2 (610475) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see ppnad2 (610475) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:germline or somatic mutations may cause the disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:germline or somatic mutations may cause the disorder | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:gestational age:time:pt:^fetus:qn:amniocentesis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gestational age:time:pt:^fetus:qn:amniocentesis | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:group a, found in north american indians, has lactic acidosis and psychomotor retardation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:growth retardation onset in utero n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:growth retardation onset in utero | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:hair may normalize at puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hair may normalize at puberty | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:hearing loss was diagnosed between 3 months to 1 year of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss was diagnosed between 3 months to 1 year of age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:heterozygotes may exhibit syndromic manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes may exhibit syndromic manifestations | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:heterozygous females may have gout and/or sensorineural deafness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous females may have gout and/or sensorineural deafness | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:high frequencies affected before low frequencies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequencies affected before low frequencies | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:high frequency in japan (2 in 20,000, 0.1%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency in japan (2 in 20,000, 0.1%) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:high frequency in northeastern brazil n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency in northeastern brazil | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:high incidence among old order amish n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high incidence among old order amish | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:high intrafamilial and interfamilial variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:high mortality in infancy and early childhood (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high mortality in infancy and early childhood (in some patients) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:high pain threshold n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high pain threshold | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:high prevalence in japan n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high prevalence in japan | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:high prevalence in the east asian population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high prevalence in the east asian population | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:highly variable phenotype, ranging from asymptomatic to death by age 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:homozygous patients have earlier-onset and more severe disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:homozygous patients have earlier-onset and more severe disease | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:incidence 2-5% of north american children n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 2-5% of north american children | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:incidence 7-15% in pacific island populations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 7-15% in pacific island populations | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:incidence in japan is 1 in 57,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence in japan is 1 in 57,000 | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 100,000 births in caucasians n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 100,000 births in caucasians | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 25,000 to 1 in 50,000 newborns n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:incidence of 1 in 5,000 to 1 in 10,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 5,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:incomplete penetance of some features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetance of some features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:incomplete penetrance (about 80%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance (about 80%) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:increased frequency among individuals of east asian descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency among individuals of east asian descent | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:increased prevalence in persons of ashkenazi jewish descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased prevalence in persons of ashkenazi jewish descent | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:increased risk of developing multiple primary cancers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased risk of developing multiple primary cancers | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:infant death may occur secondary to sepsis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infant death may occur secondary to sepsis | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:infants may have acute life-threatening crises n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infants may have acute life-threatening crises | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:initial hearing loss is mild progressing to severe or profound by the seventh decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:initially normal rod responses may become significantly reduced at older age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:initially normal rod responses may become significantly reduced at older age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:intelligence is normal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intelligence is normal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:juvenile rigid early-onset form more often paternally inherited n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:juvenile rigid early-onset form more often paternally inherited | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:later onset has been rarely reported (up to age 68 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset has been rarely reported (up to age 68 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:later onset has been reported (third or fourth decades) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset has been reported (third or fourth decades) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:later onset in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset in females | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:later onset is associated with slower progression and lesser severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset is associated with slower progression and lesser severity | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:length of attack, 3 to 7 days n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:length of attack, 3 to 7 days | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:lesions apparent at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lesions apparent at birth | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:lesions continue to grow until epiphyseal plate closure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lesions continue to grow until epiphyseal plate closure | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:less than 20% have onset at 18 years of age or less (dominant and recessive) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:lethal in males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lethal in males | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:life-threatening infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:life-threatening infections | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:limb malformations are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limb malformations are variable | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:liver functions return to normal after 3 to 4 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:liver functions return to normal after 3 to 4 months | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:loss of ambulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:loss of ambulation | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:loss of tumor suppressor gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:loss of tumor suppressor gene | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:macular degeneration only occurs in some patients at very late age (over 70) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:macular degeneration only occurs in some patients at very late age (over 70) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:majority of cases in manitoba indians, northeastern manitoba, canada n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases in manitoba indians, northeastern manitoba, canada | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:majority of patients have normal intelligence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of patients have normal intelligence | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:male predominance of 3:1 to 5:1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male predominance of 3:1 to 5:1 | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:male to female ratio 4:1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male to female ratio 4:1 | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:male-limited trait n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male-limited trait | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:male-to-female ratio of 3:2 in childhood cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male-to-female ratio of 3:2 in childhood cases | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:males mores severely affected than females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males mores severely affected than females | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:manifests in infancy (including neonatal lethal) or childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:manifests in infancy (including neonatal lethal) or childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:many features are present only in an untreated patient n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many features are present only in an untreated patient | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:maternal imprinting n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:maternal imprinting | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:may be lethal in the neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be lethal in the neonatal period | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:may manifest as 'ataxic' phenotype without parkinsonian features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may manifest as 'ataxic' phenotype without parkinsonian features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:may regress n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may regress | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mean age at diagnosis is 38 years(range 11-63 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at diagnosis is 38 years(range 11-63 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mean age at onset 11.4 years (range 4 to 35) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 11.4 years (range 4 to 35) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mean age at onset 15.2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 15.2 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mean age at onset 23.9 years (range 10 to 55 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 23.9 years (range 10 to 55 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mean age at onset is 13 years (range 6 to 43) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset is 13 years (range 6 to 43) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mean age of onset 30 years (range 25-42) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 30 years (range 25-42) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mean age of onset 50 to 52 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 50 to 52 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mean survival 5 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean survival 5 months | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:median age at onset 23 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age at onset 23 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:median survival is > 50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median survival is > 50 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mild disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild disorder | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mild facial dysmorphism is associated with duplication of the flna gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild facial dysmorphism is associated with duplication of the flna gene | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mild involvement of face and arms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild involvement of face and arms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mild to severe forms of disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild to severe forms of disease | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:more prevalent in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more prevalent in females | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:moroccan jewish and ashkenazi jewish families have been described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:moroccan jewish and ashkenazi jewish families have been described | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most cases are responsive to steroids n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases are responsive to steroids | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most cases result from de novo mutation or deletion of rai1 (607642) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases result from de novo mutation or deletion of rai1 (607642) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most common form of childhood idiopathic epilepsy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common form of childhood idiopathic epilepsy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most patients are female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients are female | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most patients are stillborn or die in immediate neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients are stillborn or die in immediate neonatal period | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most patients become wheelchair-bound in the second to fourth decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients become wheelchair-bound in the second to fourth decades | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most patients have de novo mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients have de novo mutations | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:most patients need hip replacement by their mid-thirties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients need hip replacement by their mid-thirties | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:multiple gene loci involved in causation of schizophrenia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:multiple gene loci involved in causation of schizophrenia | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:multiple seizures daily at onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:multiple seizures daily at onset | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:multisystem decompensation in response to viral infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:multisystem decompensation in response to viral infection | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:mutations have been identified in spanish families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutations have been identified in spanish families | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:myoclonus occurs at rest and with action n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:myoclonus occurs at rest and with action | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:neonatal and late-infantile onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal and late-infantile onset | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:neonatal onset of nephrotic syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal onset of nephrotic syndrome | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:neurologic features occur in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic features occur in adulthood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:neurologic symptoms may occur after trauma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic symptoms may occur after trauma | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:no abnormalities of skin, hair, teeth, or bones n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no abnormalities of skin, hair, teeth, or bones | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:no response to phenobarbital n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no response to phenobarbital | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:nonreflex epilepsy may occur later in 16 to 38% of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonreflex epilepsy may occur later in 16 to 38% of patients | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:normal ability to tolerate heat n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal ability to tolerate heat | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:normal alleles contain up to 44 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal alleles contain up to 44 repeats | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:normal in neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal in neonatal period | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:normal sialophorin gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal sialophorin gene | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:not all patients have dysmorphic facial features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:not all patients have dysmorphic facial features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:noted in early childhood in most patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:noted in early childhood in most patients | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:number of episodes varies from 1 to many (up to 20) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:number of episodes varies from 1 to many (up to 20) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:nystagmus may disappear by mid-childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nystagmus may disappear by mid-childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:occurs in 1 in 50,000 newborn males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in 1 in 50,000 newborn males | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:often confused with tuberous sclerosis (191000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often confused with tuberous sclerosis (191000) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:often fatal due in infancy due to intractable diarrhea n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often fatal due in infancy due to intractable diarrhea | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:often fatal in utero n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often fatal in utero | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one 3-generation italian family has been described (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one 3-generation italian family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one consanguineous algerian family has been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous algerian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one consanguineous family of indian descent has been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family of indian descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one consanguineous pakistani family has been reported (as of january 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one consanguineous saudi arabian family has been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family and an unrelated patient have been reported (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family and an unrelated patient have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family has been reported (as of august 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of august 2010) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated april 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated october 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated october 2013) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family has been reported (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family reported (last curated january 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported (last curated january 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family reported (last curated may 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported (last curated may 2013) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family with 3 affected girls has been reported (as of october 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 3 affected girls has been reported (as of october 2011) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one family with a fatal subacute encephalopathy has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with a fatal subacute encephalopathy has been reported | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (as of february 2012) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one patient has been reported (last curated july 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated july 2013) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one patient studied at molecular level (as of july 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient studied at molecular level (as of july 2011) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:one spanish family has been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one spanish family has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:only female patients reported (last curated october 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:only female patients reported (last curated october 2013) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset 6 to 12 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 6 to 12 months | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset after age 40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset after age 40 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset at day 1 of life has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at day 1 of life has been reported | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset before age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before age 2 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset before age 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before age 5 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset between 1-3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 1-3 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset between 6 and 14 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 6 and 14 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset between ages 1 to 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between ages 1 to 3 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset from birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset from birth | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in childhood (range infancy to 14 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (range infancy to 14 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in childhood or adolescence in most patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or adolescence in most patients | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in childhood with exacerbation during puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood with exacerbation during puberty | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in childhood, adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood, adolescence | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in early infancy, between 2 weeks and 3 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early infancy, between 2 weeks and 3 months | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in first days of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first days of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in first few years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first few years of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in first or second decade (range 4 to 13 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first or second decade (range 4 to 13 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in fourth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in fourth decade | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in fourth to fifth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in fourth to fifth decade | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in infancy or childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in infancy or late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or late childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in late twenties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late twenties | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in late twenties to thirties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late twenties to thirties | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in mid to late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in mid to late childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in second and third decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second and third decades | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in teenage or young adult years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in teenage or young adult years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in the first few months of life patients may need lifelong total parenteral nutrition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset in utero or at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in utero or at birth | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of acute encephalopathic attacks in childhood (3 to 7 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of bone disease in second decade (range 18-44 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of bone disease in second decade (range 18-44 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of disease 3-8 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease 3-8 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of disease 7 months to 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease 7 months to 3 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of hearing loss in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss in childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of insulin resistance may occur in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of insulin resistance may occur in childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of muscle weakness around age 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of muscle weakness around age 5 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of muscle weakness in late adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of muscle weakness in late adulthood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of optic atrophy in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of optic atrophy in childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of peripheral neuropathy ranges from childhood to mid-adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of peripheral neuropathy ranges from childhood to mid-adulthood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of proteinuria in the third to fourth decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of proteinuria in the third to fourth decades | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of seizures before age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures before age 2 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms 2-4 weeks of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms 2-4 weeks of age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms after age 5 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms after age 5 | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms in first or second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in first or second decade of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms in the fourth to sixth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in the fourth to sixth decade of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset of symptoms usually in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms usually in adulthood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset precipitated by fasting or illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset precipitated by fasting or illness | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset usually in first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in first decade | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset usually in first month of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in first month of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset usually in infancy or childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in infancy or childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset usually in third or fourth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in third or fourth decade | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset usually within first weeks of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually within first weeks of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:onset within first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset within first year of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:oral supplementation with ubiquinone does not result in major clinical improvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:oral supplementation with ubiquinone does not result in major clinical improvement | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:ossification occurs spontaneously during childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ossification occurs spontaneously during childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:painful cramping following ischemic exercise test n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:painful cramping following ischemic exercise test | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:paternal anticipation bias n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:paternal anticipation bias | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients die in infancy due to infectious complications n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients die in infancy due to infectious complications | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients from 4 unrelated families have been reported (as of october 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients from 4 unrelated families have been reported (as of october 2011) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients have no abnormalities of hair, teeth, or bone n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients have no abnormalities of hair, teeth, or bone | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients have severe anemia requiring regular transfusions for normal activity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients have severe anemia requiring regular transfusions for normal activity | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients look as if they have protein deficiency or malnutrition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients look as if they have protein deficiency or malnutrition | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients may present with recurrent illnesses or infections, or shock n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may present with recurrent illnesses or infections, or shock | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients often become wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients often become wheelchair-bound | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients older than 60 years have severe degenerative arthritis in the feet n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients older than 60 years have severe degenerative arthritis in the feet | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients present with groin pain n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients present with groin pain | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients with recessive mutations have a more severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with recessive mutations have a more severe phenotype | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:patients with residual enzyme activity have childhood or adult onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with residual enzyme activity have childhood or adult onset | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:performing laboratory name:identifier:point in time:facility:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:performing laboratory name:identifier:point in time:facility:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:perinatal death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:perinatal death | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:phenotypic similarities to angelman syndrome (105830) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic similarities to angelman syndrome (105830) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:phenotypic variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic variability | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:phenotypic variation in severity and symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic variation in severity and symptoms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:pigmentation not always butterfly-shaped n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pigmentation not always butterfly-shaped | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:polyhydramnios n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:polyhydramnios | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:poor or no response to glucocorticoid treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poor or no response to glucocorticoid treatment | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:positive response to treatment with growth hormone n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:positive response to treatment with growth hormone | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:possible gonadal mosaicism in one report n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible gonadal mosaicism in one report | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:possible x-linked dominant inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible x-linked dominant inheritance | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:precipitated by febrile illness and fasting n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitated by febrile illness and fasting | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:precipitated by general anesthesia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitated by general anesthesia | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:precipitated by infection, fasting, or intercurrent illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitated by infection, fasting, or intercurrent illness | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:precipitating factors include viral illness and pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:precipitating factors include viral illness and pregnancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:premature aging syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:premature aging syndrome | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:prenatal onset or onset in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prenatal onset or onset in infancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:presentation after 6 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation after 6 months | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:presents at a later stage than sporadic wilms tumor n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presents at a later stage than sporadic wilms tumor | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:prevalence in norway is 1 in 80,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence in norway is 1 in 80,000 | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:prevalence of 1 in 240 zuni indians n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 240 zuni indians | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:prevalence of 1 in 7,900 in cameroon n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 7,900 in cameroon | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:prevalence of 7 in 100,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 7 in 100,000 live births | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:prevalence of true hypoprothrombinemia is 1 in 2 million n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of true hypoprothrombinemia is 1 in 2 million | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:prevalent in the old order amish in the u.s. and in finland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent in the old order amish in the u.s. and in finland | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:primary teeth affected greater than secondary teeth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:primary teeth affected greater than secondary teeth | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:progression of the disorder is precipitated by viral symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progression of the disorder is precipitated by viral symptoms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:progressive deafness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive deafness | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:progressive disorder due to secondary myopathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive disorder due to secondary myopathy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:progressive skeletal dysplasia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive skeletal dysplasia | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:progressive, with full manifestations at puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive, with full manifestations at puberty | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:protein s deficiency is found in 2-3% of patients with thromboembolism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:protein s deficiency is found in 2-3% of patients with thromboembolism | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:psychiatric symptoms may be the presenting sign n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:psychiatric symptoms may be the presenting sign | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:pulsatile headache lasts hours to days n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pulsatile headache lasts hours to days | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:rapidly progressive course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapidly progressive course | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:rapidly progressive disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapidly progressive disorder | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:rarely, patients may be asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rarely, patients may be asymptomatic | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:recurrent acute episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent acute episodes | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:recurrent episodes of liver failure during intercurrent infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent episodes of liver failure during intercurrent infections | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:reduced penetrance (approximately 54%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced penetrance (approximately 54%) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:reference lab test name:type:time reported elsewhere:reference lab test:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:relatively benign course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relatively benign course | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:reported in 1 family (last curated may 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported in 1 family (last curated may 2013) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:resembles intrauterine torch infection but without intrauterine infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:resembles intrauterine torch infection but without intrauterine infection | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:response to benadryl (diphenhydramine) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:response to benadryl (diphenhydramine) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:response to zinc supplementation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:response to zinc supplementation | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:responsive to vitamin b12 therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:sando (607459) is a phenotypic variant of autosomal recessive peo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sando (607459) is a phenotypic variant of autosomal recessive peo | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:second most common form of usher syndrome type i n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:second most common form of usher syndrome type i | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:secondary features include arterial hypertension and renal involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:secondary features include arterial hypertension and renal involvement | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see (277600) for a phenotypically similar autosomal recessive form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see (277600) for a phenotypically similar autosomal recessive form | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also autosomal dominant form (176860) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant form (176860) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also autosomal dominant lutheran-null phenotype (111150) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant lutheran-null phenotype (111150) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also autosomal recessive robinow syndrome (268310) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal recessive robinow syndrome (268310) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also gaucher disease type iii (231000), which is much less severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also gaucher disease type iii (231000), which is much less severe | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also oca1a (203100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also oca1a (203100) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also pachyonychia congenita, type 3 (pc1, 167200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also pachyonychia congenita, type 3 (pc1, 167200) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also simplex eb with pyloric atresia (612138) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also simplex eb with pyloric atresia (612138) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also the lethal neonatal (608836) and infantile (600649) forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also the lethal neonatal (608836) and infantile (600649) forms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see also x-linked leigh syndrome (312170) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also x-linked leigh syndrome (312170) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:seen more frequently in infants of diabetic mothers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seen more frequently in infants of diabetic mothers | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:seizures are usually refractory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are usually refractory | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:seizures become nearly continuous n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures become nearly continuous | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:seizures last about 30 seconds to 3 minutes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures last about 30 seconds to 3 minutes | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:seizures occur upon awakening n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures occur upon awakening | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:seizures recur in 33% of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures recur in 33% of patients | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:seizures remit in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures remit in early childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:severe hearing loss by age 50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe hearing loss by age 50 years | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:severely affected individuals may carry 2 mutated alleles n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severely affected individuals may carry 2 mutated alleles | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:sex ratio - 2 females to 1 male n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sex ratio - 2 females to 1 male | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:sister of affected male siblings had mild learning disabilities and obesity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sister of affected male siblings had mild learning disabilities and obesity | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:skewed x-inactivation, with complete skewing in some individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skewed x-inactivation, with complete skewing in some individuals | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:smaller repeat lengths in younger generations (reverse anticipation) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:smaller repeat lengths in younger generations (reverse anticipation) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some carrier females may manifest mild symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some carrier females may manifest mild symptoms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some patients are asymptomatic and diagnosed incidentally n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients are asymptomatic and diagnosed incidentally | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some patients do not have dysmorphic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients do not have dysmorphic features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some patients have later onset and more variable phenotype (mngie) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have later onset and more variable phenotype (mngie) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some patients have resolution of symptoms in first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have resolution of symptoms in first year of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some patients may be asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may be asymptomatic | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some patients may have normal development until onset of seizures in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may have normal development until onset of seizures in infancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some patients may show response to immunosuppressive agents n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may show response to immunosuppressive agents | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some patients report increased tolerance to heat n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients report increased tolerance to heat | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some patients report seasonal variation in symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients report seasonal variation in symptoms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:some phenotypic overlap with rett syndrome (312750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some phenotypic overlap with rett syndrome (312750) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:spinal involvement improves with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spinal involvement improves with age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:sporadic occurrence is associated with advanced paternal age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sporadic occurrence is associated with advanced paternal age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:static or slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:static or slowly progressive | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:static, nonprogressive disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:static, nonprogressive disorder | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:stillborn or death in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stillborn or death in infancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:stillborn or death shortly after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stillborn or death shortly after birth | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:subset of patients have french-canadian leigh syndrome (220111) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subset of patients have french-canadian leigh syndrome (220111) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:subset of patients have leigh syndrome (256000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subset of patients have leigh syndrome (256000) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:sudden death in affected females occurs in the forties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden death in affected females occurs in the forties | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:survival past infancy is rare n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survival past infancy is rare | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:survival to advanced age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survival to advanced age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:symptoms are often responsive to alcohol n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms are often responsive to alcohol | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:symptoms can be prevented by strict dietary restriction n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms can be prevented by strict dietary restriction | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:symptoms present from infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms present from infancy or early childhood | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:symptoms relieved by serotonin antagonist (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms relieved by serotonin antagonist (in some patients) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:therapy is placement of implantable cardioverter defibrillator (icd) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:therapy is placement of implantable cardioverter defibrillator (icd) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:thin, fine hair described in few individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:thin, fine hair described in few individuals | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:three families have been reported (last curated april 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families have been reported (last curated april 2011) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:three forms of cjd: acquired (including variant), sporadic, and inherited n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three forms of cjd: acquired (including variant), sporadic, and inherited | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:three main clinical forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three main clinical forms | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:three patients from 1 french canadian family have been reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients from 1 french canadian family have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:three unrelated families have been reported (last curated june 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated june 2012) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:three unrelated french families have been reported (last curated april 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated french families have been reported (last curated april 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:tumors usually develop between 40 and 60 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tumors usually develop between 40 and 60 years of age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two consanguineous pakistan families have been described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two consanguineous pakistan families have been described | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two families have been reported (as of 6/2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (as of 6/2011) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two families have been reported (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two fetuses have been reported (as of august 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two fetuses have been reported (as of august 2011) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two loci control synthesis of c4, c4a (120810) and c4b (120820) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two main presentations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two main presentations | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two of 3 patients became wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two of 3 patients became wheelchair-bound | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two sibs have been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two types - lethal neonatal and less severe, late onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two types - lethal neonatal and less severe, late onset | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two unrelated consanguineous families have been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated consanguineous families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (as of july 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (as of july 2011) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:two unrelated families have been reported (last curated october 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:type 1 porencephaly is usually unilateral and results from destructive lesions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 1 porencephaly is usually unilateral and results from destructive lesions | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:type ii patients are usually japanese and have significant aprt activity (10-25%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:u.s. frequency higher in blacks than whites n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:u.s. frequency higher in blacks than whites | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:ultrasound detection in second trimester of pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ultrasound detection in second trimester of pregnancy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:uniparental disomy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:uniparental disomy | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:upper urinary tract usually normal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:upper urinary tract usually normal | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:usual age of onset in the 20s and 30s n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usual age of onset in the 20s and 30s | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:usually adult onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually adult onset | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:usually fatal within the first few weeks of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually fatal within the first few weeks of life | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable age at onset (range prenatal to mid-adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range prenatal to mid-adulthood) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable age at onset, range infancy to adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, range infancy to adult | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable age at onset, usually first or second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, usually first or second decade | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable age of onset (6 to 35 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (6 to 35 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable age of onset (7-59 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (7-59 years) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable clinical features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable clinical features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable clinical presentation that may change with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable clinical presentation that may change with age | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable distribution, may be focal, segmental, multifocal, or generalized n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable distribution, may be focal, segmental, multifocal, or generalized | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable expressivity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expressivity | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable expressivity, some patients may be clinically asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expressivity, some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable extraneurologic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable extraneurologic features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable frequency and severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable frequency and severity | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable presentation of clinical features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable presentation of clinical features | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:wasting of the hands is the first and most prominent manifestation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wasting of the hands is the first and most prominent manifestation | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:waxing and waning cardiomyopathy (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:waxing and waning cardiomyopathy (in some patients) | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:women may be mildly affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:women may be mildly affected | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 30 / 0.698 -> en:xy karyotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:xy karyotype | rel=r_associated | relid=0 | w=30 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:2 patients described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:2 patients described | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:50% of cases represent new mutations associated with advanced paternal age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:50% of cases represent new mutations associated with advanced paternal age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:a subset of patients have a 'visual variant' n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a subset of patients have a 'visual variant' | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:a subset of patients may have congenital abnormalities of the ocular anterior segment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:about a dozen patients have been reported (as of march 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about a dozen patients have been reported (as of march 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:accounts for 30-50% of lymphomas in children n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:accounts for 30-50% of lymphomas in children | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:acetazolamide may benefit attacks of vertigo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acetazolamide may benefit attacks of vertigo | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:acral form of skin peeling limited to hands and feet (609796) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acral form of skin peeling limited to hands and feet (609796) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:adult onset (45 to 76 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (45 to 76 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:adult onset (mean 27 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (mean 27 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:adult onset (mean 30 years, range 10-65 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (mean 30 years, range 10-65 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:adult onset (range 12 to 59 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (range 12 to 59 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:adult onset (range 28 to 55 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (range 28 to 55 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:adult onset (range 30 to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (range 30 to 50 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:adult onset form usually presents with psychiatric manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset form usually presents with psychiatric manifestations | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:adult onset of neurologic symptoms has been reported in 1 family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset of neurologic symptoms has been reported in 1 family | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:adult onset rarely reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset rarely reported | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:affected females have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected females have been reported | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:age at diagnosis 9 +/- 6 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at diagnosis 9 +/- 6 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:age at onset in females ranges from childhood to the fourth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset in females ranges from childhood to the fourth decade | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:age at onset most often in childhood (first decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset most often in childhood (first decade) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:age of onset between 5 and 10 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset between 5 and 10 years of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:age of onset ranges from 1 to 47 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset ranges from 1 to 47 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:age-related clinical course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age-related clinical course | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:age:time:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:all features are unilateral n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all features are unilateral | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:all reported cases have de novo mutations (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all reported cases have de novo mutations (last curated october 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:all reported cases have occurred de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all reported cases have occurred de novo | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to long qt syndrome-1 (lqt1, 192500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to aicardi-goutieres syndrome (225750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to aicardi-goutieres syndrome (225750) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to birt-hogg-dube syndrome (135150) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to birt-hogg-dube syndrome (135150) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to pachyonychia congenita jackson-lawler type (167210) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to pachyonychia congenita jackson-lawler type (167210) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to roberts syndrome (268300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to roberts syndrome (268300) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:alopecia usually occurs around puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:alopecia usually occurs around puberty | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:appear normal at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:appear normal at birth | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:approximately 60% of brrs patients have pten mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 60% of brrs patients have pten mutations | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:approximately half of cases are due to de novo deletions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately half of cases are due to de novo deletions | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:associated specifically with the gba d409h mutation (606463.0006) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated specifically with the gba d409h mutation (606463.0006) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:associated with deletion at chromosome 2q37 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with deletion at chromosome 2q37 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:associated with iron deficiency anemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with iron deficiency anemia | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:association between hla class ii alleles and presence of autoantibodies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:association between hla class ii alleles and presence of autoantibodies | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:association with autoimmune diseases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:association with autoimmune diseases | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:at birth, there is generalized red scaly skin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:at birth, there is generalized red scaly skin | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:ataxia becomes evident at the end of the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ataxia becomes evident at the end of the first year of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:ataxia is slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ataxia is slowly progressive | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:atypical affected males, 'cardiac variants' 301500.0005 exist n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:atypical affected males, 'cardiac variants' 301500.0005 exist | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:autosomal dominant with complete penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal dominant with complete penetrance | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:autosomal dominant with incomplete penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:autosomal recessive cytochrome b-positive cgd, type ii (233710) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:autosomal recessive inheritance can occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance can occur | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:autosomal recessive inheritance has also been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance has also been reported | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:autosomal recessive inheritance has been reported in 1 case n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance has been reported in 1 case | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:average age at death is 37 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at death is 37 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on one finnish family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one finnish family | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on one large dutch family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one large dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on one patient (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one patient (last curated february 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on one sib pair each in their seventies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one sib pair each in their seventies | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on report of 1 consanguineous turkish family (last curated june 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 consanguineous turkish family (last curated june 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on report of 2 affected brothers in 1 family (last curated october 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 affected brothers in 1 family (last curated october 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on report of 2 families (last curated january 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 families (last curated january 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on report of 4 unrelated patients (last curated january 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 4 unrelated patients (last curated january 2016) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on report of a chinese father and son (last curated may 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of a chinese father and son (last curated may 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:based on report of one indian family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of one indian family (last curated august 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:begins in feet and legs (peroneal distribution) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:begins in feet and legs (peroneal distribution) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:bimodal age of onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bimodal age of onset | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:both autosomal dominant and autosomal recessive inheritance have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both autosomal dominant and autosomal recessive inheritance have been reported | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:broad range in severity of presentation in sibships n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:broad range in severity of presentation in sibships | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:can be slowly or rapidly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:can be slowly or rapidly progressive | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:candidiasis is restricted to nails of hands and feet n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:candidiasis is restricted to nails of hands and feet | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:cardiac and pulmonary dysfunction normalize in the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cardiac and pulmonary dysfunction normalize in the first year of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:carrier frequency 1:700 in bukhara jewish populations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier frequency 1:700 in bukhara jewish populations | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:caused by inheritance of the mutation on the maternal allele (imprinting) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by inheritance of the mutation on the maternal allele (imprinting) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:caused by inheritance of the mutation on the paternal allele (imprinting) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by inheritance of the mutation on the paternal allele (imprinting) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:caused by paternally-inherited inactivating gnas1 mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by paternally-inherited inactivating gnas1 mutations | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:cerebellar ataxia shows onset in young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cerebellar ataxia shows onset in young adulthood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:child often can sit unsupported but never ambulates n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:child often can sit unsupported but never ambulates | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:children rarely develop the disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:children rarely develop the disorder | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:citation:bib:pt:reference lab test:nar n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:citation:bib:pt:reference lab test:nar | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:clinical and biochemical abnormalities improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical and biochemical abnormalities improve with age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:clinical improvement after 2 to 3 weeks of supportive care n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical improvement after 2 to 3 weeks of supportive care | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:codominant inheritance has been suggested n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:codominant inheritance has been suggested | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:complete penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complete penetrance | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:condition is experienced by patients as harmless and is often discovered incidentally n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:condition is experienced by patients as harmless and is often discovered incidentally | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:contiguous gene deletion syndrome of 5q31 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contiguous gene deletion syndrome of 5q31 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:contractures other than plantar are less common and less severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contractures other than plantar are less common and less severe | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:deafness is presenting symptom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:deafness is presenting symptom | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death at 13 to 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death at 13 to 30 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death due to respiratory insufficiency within minutes to hours after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death due to respiratory insufficiency within minutes to hours after birth | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death in childhood occurs without bone marrow transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in childhood occurs without bone marrow transplantation | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death in childhood often results from respiratory insufficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in childhood often results from respiratory insufficiency | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death in infancy in majority of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy in majority of patients | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death in infancy secondary to respiratory insufficiency/pneumonia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy secondary to respiratory insufficiency/pneumonia | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death in the fifth or sixth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in the fifth or sixth decade | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death in the first years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in the first years of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death often secondary to pneumonia or congestive heart failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often secondary to pneumonia or congestive heart failure | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death usually in first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in first year of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:death usually in infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in infancy or early childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:delta-f508 present in 70% of alleles n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:delta-f508 present in 70% of alleles | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:dermatitis resolves in offspring after zinc supplementation and/or weaning n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:diagnosed in second or third decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosed in second or third decade of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:diagnosis made if 3/7 defects are present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis made if 3/7 defects are present | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:distinct disorder from galactosemia (230400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from galactosemia (230400) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:distinct disorder from parkinson disease (168600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from parkinson disease (168600) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:duane anomaly is not always present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:duane anomaly is not always present | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:dystonia is usually focal or segmental n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dystonia is usually focal or segmental | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:dystonia occurs later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dystonia occurs later | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:earlier onset associated with increased severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:earlier onset associated with increased severity | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:earlier onset may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:earlier onset may occur | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:early death may occur without bone marrow transplant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death may occur without bone marrow transplant | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:early onset, between 35-60 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early onset, between 35-60 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:early treatment can reduce neurologic symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early treatment can reduce neurologic symptoms | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:eight unrelated patients have been reported (as of september 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:eight unrelated patients have been reported (as of september 2011) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:electrolyte imbalances can mimic renal bartter syndrome (601678) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:elevated body temperatures to 42 degrees celsius n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:elevated body temperatures to 42 degrees celsius | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:episode, syncopal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episode, syncopal | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:estimated frequence 1/3000 to 1/5000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated frequence 1/3000 to 1/5000 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:estimated incidence 1/20,000 - 1/40,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated incidence 1/20,000 - 1/40,000 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:estimated mutation carrier rate of 1 in 350 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated mutation carrier rate of 1 in 350 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:extremely variable phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:extremely variable phenotype | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:fatal before age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatal before age 2 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:favorable response to l-dopa without side effects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to l-dopa without side effects | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:favorable response to lenalidomide treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to lenalidomide treatment | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:favorable response to sodium chloride treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to sodium chloride treatment | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:features usually appear during adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features usually appear during adulthood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:febrile attacks disappear in adulthood in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:febrile attacks disappear in adulthood in some patients | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:female carriers may be affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may be affected | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:female carriers may have hearing loss and/or subclinical peripheral neuropathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have hearing loss and/or subclinical peripheral neuropathy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:female carriers may show some manifestations, such as hearing impairment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may show some manifestations, such as hearing impairment | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:female mutation carriers have earlier age at onset compared to male mutation carriers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female mutation carriers have earlier age at onset compared to male mutation carriers | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:female to male ratio, 1:1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female to male ratio, 1:1 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:females often show milder phenotype with later onset of cardiac symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:females often show milder phenotype with later onset of cardiac symptoms | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:fever of unknown origin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fever of unknown origin | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:founder effect in irish traveler population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:founder effect in irish traveler population | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:four patients from 3 families have been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients from 3 families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:four patients have been reported from pakistan (as of march 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients have been reported from pakistan (as of march 2011) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:four unrelated patients have been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated patients have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:four unrelated patients have been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:four unrelated patients have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:fractures and dental caries and premature secondary tooth loss occur in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:frequent neonatal sudden death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequent neonatal sudden death | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:gei (gene-environment interaction) - association of cardiac events with drug administration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gei (gene-environment interaction) - association of cardiac events with drug administration | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:genetic anticipation occurs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic anticipation occurs | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see 601680) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 601680) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see pfic1, 211600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see pfic1, 211600) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:genetic heterogeneity, see ekd1 (128200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see ekd1 (128200) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:global developmental delay n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:global developmental delay | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:gonadal and somatic mosaicism reported in parent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gonadal and somatic mosaicism reported in parent | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:hair tends to straighten by 2nd-3rd decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hair tends to straighten by 2nd-3rd decade | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:hearing loss ma be fluctuating or progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss ma be fluctuating or progressive | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:hearing loss was progressive in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss was progressive in some patients | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:heterozygotes have half-normal levels of apob-containing lipoproteins n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes have half-normal levels of apob-containing lipoproteins | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:heterozygous carriers have an increased risk of metabolic dysfunction n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous carriers have an increased risk of metabolic dysfunction | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:high frequency in hutterite population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency in hutterite population | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:highly variable age at onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable age at onset | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:highly variable clinical phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable clinical phenotype | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:highly variable phenotype with respect to facial dysmorphism and neurologic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:highly variable severity of muscle weakness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable severity of muscle weakness | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:hypertension is presenting sign n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hypertension is presenting sign | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:immunodeficiency is progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:immunodeficiency is progressive | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 10,000 to 1 in 20,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 10,000 to 1 in 20,000 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:incidence of 1 in 500,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 500,000 live births | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:incidence of 1/50,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1/50,000 births | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:incidence of 4 per million per year n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 4 per million per year | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:incidence, 1 in 650-1000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence, 1 in 650-1000 live births | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:incomplete penetrance in some families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance in some families | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:incomplete, but high, penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete, but high, penetrance | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:increased frequency in ashkenazi jewish population (1/100 are carriers) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:increased frequency in finland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in finland | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:increased frequency in finland (prevalence of 1 in 20,000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in finland (prevalence of 1 in 20,000) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:increased frequency in the dariusleut hutterites (canada) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in the dariusleut hutterites (canada) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:increased male-to-female ratio (3-4 to 1) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased male-to-female ratio (3-4 to 1) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:increased penetrance of phenotype when there is maternal transmission of the mutant allele n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased penetrance of phenotype when there is maternal transmission of the mutant allele | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:increased prevalence among the finnish n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased prevalence among the finnish | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:increased prevalence in individuals of jewish-iraqi origin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased prevalence in individuals of jewish-iraqi origin | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:independent ambulation is maintained n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:independent ambulation is maintained | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:individuals do not develop erythrocytosis under hypoxic conditions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:individuals do not develop erythrocytosis under hypoxic conditions | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:infections may precipitate ketotic episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infections may precipitate ketotic episodes | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:intracellular accumulation of material may not always be apparent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intracellular accumulation of material may not always be apparent | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:intrafamilial variability in degree of hypotrichosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial variability in degree of hypotrichosis | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:intrafamilial variability in number of missing teeth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial variability in number of missing teeth | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:laryngeal edema can result in asphyxiation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:laryngeal edema can result in asphyxiation | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:late infantile form has onset between 19 months and 4 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late infantile form has onset between 19 months and 4 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:late-adult onset (usually after age 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late-adult onset (usually after age 50 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:leakage of fluid ('gusher') if the stapes is disturbed n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:leakage of fluid ('gusher') if the stapes is disturbed | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:lethal in utero or in the perinatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lethal in utero or in the perinatal period | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:lethal in utero or perinatal lethal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lethal in utero or perinatal lethal | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:lifetime risk of breast cancer in mutation carriers is 60 to 85% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:loss of ambulation within 10 years of onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:loss of ambulation within 10 years of onset | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:majority of cases have bilateral involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases have bilateral involvement | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:majority of patients are pyridoxine-responsive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of patients are pyridoxine-responsive | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:male to female ratio 21:8 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male to female ratio 21:8 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:male to female ratio is greater than 3:1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male to female ratio is greater than 3:1 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:males are more severely affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males are more severely affected | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:manifestations of cushing syndrome may be mild n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:manifestations of cushing syndrome may be mild | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:manifestations present in second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:manifestations present in second decade of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:marked clinical variability within families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked clinical variability within families | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:marked favorable response to l-dopa treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked favorable response to l-dopa treatment | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:marked intrafamilial and interfamilial variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:may be exacerbated by febrile illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be exacerbated by febrile illness | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:may be lethal in infancy if untreated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be lethal in infancy if untreated | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:may be progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be progressive | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:may occur in adults (also in pregnancy) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may occur in adults (also in pregnancy) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:may result in early death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may result in early death | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mean age at onset 27 years (range 9 to 42) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 27 years (range 9 to 42) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mean age at onset 32 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 32 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mean age at onset 45 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 45 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mean age at onset 48 years (range 38 to 64) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 48 years (range 38 to 64) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mean age at onset of migraines is 42 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset of migraines is 42 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mean age of diagnosis of renal cell carcinoma is 46 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of diagnosis of renal cell carcinoma is 46 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mean age of onset 21 years (range 14-35 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 21 years (range 14-35 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mean age of onset about 62 years (45-79 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset about 62 years (45-79 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:median age of diagnosis is 28 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age of diagnosis is 28 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:median onset of neurologic symptoms is 13 years (range 5 to 28) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mental retardation likely secondary to neonatal hypoxia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mental retardation likely secondary to neonatal hypoxia | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:metabolic encephalomyopathic crises often triggered by infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:metabolic encephalomyopathic crises often triggered by infection | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:middle age onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:middle age onset | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mild cases show clinical, biochemical, and mri improvement after the second year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mild manifestations in carrier females (cleft lip, cleft tongue) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild manifestations in carrier females (cleft lip, cleft tongue) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:milder form with onset in childhood, absence seizures, and learning difficulties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:milder form with onset in childhood, absence seizures, and learning difficulties | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:minimum duplication includes bhlha9 (615416) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:minimum duplication includes bhlha9 (615416) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:moderate age-related improvement of pancreatic function n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:moderate age-related improvement of pancreatic function | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:more common in men than women n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more common in men than women | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:more common in women n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more common in women | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:more frequent in individuals of asian descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more frequent in individuals of asian descent | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most case are sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most case are sporadic | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most cases result from a de novo mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases result from a de novo mutation | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most common form of porphyria n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common form of porphyria | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most individuals are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most individuals are asymptomatic | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most mutations occur de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most mutations occur de novo | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most patients are from finland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients are from finland | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most patients become wheelchair-bound in later childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients become wheelchair-bound in later childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most patients become wheelchair-bound in the second or third decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients become wheelchair-bound in the second or third decades | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most patients die in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die in early childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most patients have a family history of fragile x syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients have a family history of fragile x syndrome | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:most types show autosomal dominant inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most types show autosomal dominant inheritance | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:motor neuropathy more prominent than sensory neuropathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:motor neuropathy more prominent than sensory neuropathy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:motor skills less affected than cognitive skills n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:motor skills less affected than cognitive skills | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:motor symptoms develop later (about 5 years into illness) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:motor symptoms develop later (about 5 years into illness) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mucocutaneous immunodeficiency syndrome may be prominent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mucocutaneous immunodeficiency syndrome may be prominent | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:multiorgan failure may result from hs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:multiorgan failure may result from hs | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:muscle involvement shows onset at birth or in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:muscle involvement shows onset at birth or in infancy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mutant alleles have 47 to 63 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutant alleles have 47 to 63 repeats | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mutation carriers may show toxicity to 5-fluorouracil (5fu) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mutations are frequently maternally inherited n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutations are frequently maternally inherited | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:mutations show partial penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutations show partial penetrance | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:neonatal onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal onset | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:neurologic features occur later in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic features occur later in childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:neuropsychiatric manifestations are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neuropsychiatric manifestations are variable | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:newborn period is critical for survival n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:newborn period is critical for survival | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:night blindness from early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:night blindness from early childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:no family history, de novo mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no family history, de novo mutations | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:no history of familial hypercholesterolemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no history of familial hypercholesterolemia | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:no laterality defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no laterality defects | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:no skin abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no skin abnormalities | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:nonprogressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonprogressive | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:normal intelligence in majority n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal intelligence in majority | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:normal sclerae and teeth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal sclerae and teeth | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:not all patients have renal involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:not all patients have renal involvement | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:not responsive to biotin treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:not responsive to biotin treatment | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:occasional adult onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occasional adult onset | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:occurs in 2-5 per 10,000 individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in 2-5 per 10,000 individuals | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:occurs in about 1 in 10,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in about 1 in 10,000 births | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:occurs most often among black africans n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs most often among black africans | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:odor of 'sweaty feet' n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:odor of 'sweaty feet' | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:often associated with chiari type i malformation (cm1, 118420) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often associated with chiari type i malformation (cm1, 118420) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:often lethal in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often lethal in infancy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one 3-generation danish family reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one 3-generation danish family reported (last curated march 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one consanguineous costa rican family has been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous costa rican family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one consanguineous pakistani family has been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family has been reported (last curated june 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one consanguineous pakistani family has been reported (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one consanguineous turkish family has been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous turkish family has been reported (last curated december 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one family and 1 unrelated patient have been reported (last curated july 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family and 1 unrelated patient have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one family has been reported (last curated october 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one family reported (as of november 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported (as of november 2011) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one family with 5 affected members has been reported (last curated september 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 5 affected members has been reported (last curated september 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one family with a cacna1b mutation has been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with a cacna1b mutation has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one french family has been reported (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one french family has been reported (last curated july 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one italian family has been described (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one italian family has been described (last curated august 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one italian family has been reported (last curated july 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one italian family has been reported (last curated july 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one patient has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one patient reported (last curated november 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one patient reported with col3a1 mutation (120180.0020) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient reported with col3a1 mutation (120180.0020) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one patient with additional features of fanconi anemia has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with additional features of fanconi anemia has been reported | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:one six-generation family from northern china has been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one six-generation family from northern china has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:only individuals homozygous for risk or non-risk alleles were studied n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:only individuals homozygous for risk or non-risk alleles were studied | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset 3 months of age up to 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 3 months of age up to 5 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset 6 to 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 6 to 30 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset after puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset after puberty | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset age 2 to 7 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset age 2 to 7 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset age 32 to 45 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset age 32 to 45 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset at 2 to 4 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at 2 to 4 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset at 4 to 9 weeks of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at 4 to 9 weeks of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset at 6-36 hours of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at 6-36 hours of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset at 6-9 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at 6-9 months | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset at age 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at age 5 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset at or soon after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at or soon after birth | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset before age 5 years in the absence of instruction n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before age 5 years in the absence of instruction | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset between 5 to 28 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 5 to 28 years of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset between 6 and 12 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 6 and 12 months of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset between age 2 and 15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between age 2 and 15 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset between ages 12 and 20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between ages 12 and 20 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset between ages 2 and 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between ages 2 and 5 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset birth to 6 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset birth to 6 months | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset by 3 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset by 3 years of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in adolescence or adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in adolescence or adulthood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in childhood (range 4 to 12 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (range 4 to 12 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in childhood or as young adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or as young adult | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in childhood or early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or early adulthood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in childhood or second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or second decade | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in early childhood to puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early childhood to puberty | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in first decades (males) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decades (males) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in first or second decade (range infancy to teenage years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first or second decade (range infancy to teenage years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in infancy and third decade had been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy and third decade had been reported | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in infancy or early childhood (before age 3 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or early childhood (before age 3 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in infancy or first years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or first years of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in infancy was reported in 1 family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy was reported in 1 family | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in infancy, but may not be diagnosed until later in mild cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy, but may not be diagnosed until later in mild cases | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in late adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late adulthood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in late infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late infancy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in newborns or infants n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in newborns or infants | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in second decade or as young adult n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second decade or as young adult | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in second half of the first decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second half of the first decade of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in second to third decades (postlingual) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second to third decades (postlingual) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in the fourth to sixth decades (mean 40 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the fourth to sixth decades (mean 40 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in the second or third decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the second or third decade of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in utero or early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in utero or early infancy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in utero or in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in utero or in infancy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset in young adulthood (range 18 to 23 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in young adulthood (range 18 to 23 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of ataxia in early childhood (range 15 months to 3 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of ataxia in early childhood (range 15 months to 3 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of crises in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of crises in early childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of disease between 25 and 40 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease between 25 and 40 years of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of fractures in infancy to early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of fractures in infancy to early childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of gait abnormalities at 8 to 40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of gait abnormalities at 8 to 40 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of hemolytic anemia shortly after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hemolytic anemia shortly after birth | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of lipodystrophy in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of lipodystrophy in early childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of mild symptoms in first or second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of mild symptoms in first or second decade | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of muscle weakness in fifth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of muscle weakness in fifth decade | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of neurologic disease in early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of neurologic disease in early adulthood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of optic atrophy in infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of optic atrophy in infancy or early childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of seizures between 8 and 11 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures between 8 and 11 months of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of symptoms 2-6 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms 2-6 years of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of vision loss in young adulthood (<20 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of vision loss in young adulthood (<20 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset of visual loss in the first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of visual loss in the first decade | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset prenatally or at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset prenatally or at birth | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset soon after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset soon after birth | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset typically in childhood although onset in late adolescence or early adulthood has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset typically in childhood although onset in late adolescence or early adulthood has been reported | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset usually after age 40 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually after age 40 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset usually at 2 to 6 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually at 2 to 6 months of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset usually in first or second decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in first or second decades | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset usually in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in infancy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset usually in infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in infancy or early childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset usually in infancy or early childhood (9 months to 6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in infancy or early childhood (9 months to 6 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset usually in the neonatal period although later onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in the neonatal period although later onset has been reported | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset usually in the third decade (range 11 to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in the third decade (range 11 to 50 years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset usually in third decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in third decade of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset within first 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset within first 2 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:onset within first 6 months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset within first 6 months of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:ophthalmologic signs onset in first to sixth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ophthalmologic signs onset in first to sixth decade | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:opportunistic infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:opportunistic infections | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:oral contraceptives may also cause symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:oral contraceptives may also cause symptoms | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:overlap with tourette syndrome (137580) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:overlap with tourette syndrome (137580) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:overlapping features of digeorge syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:overlapping features of digeorge syndrome | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients become wheelchair-bound about 10 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients become wheelchair-bound about 10 years after onset | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients do not exhibit skin pigmentation changes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients do not exhibit skin pigmentation changes | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients present at birth with respiratory distress or poor head control n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients present at birth with respiratory distress or poor head control | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients who acquire ability to walk may lose it n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients who acquire ability to walk may lose it | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients with adult onset present with psychiatric features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with adult onset present with psychiatric features | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:penetrance is usually complete by age 65 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:penetrance is usually complete by age 65 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:peo is not always present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:peo is not always present | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:performing laboratory:addr:pt:facility:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:performing laboratory:addr:pt:facility:nom | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:periodontium is less severely affected than in papillon-lefevre syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:periodontium is less severely affected than in papillon-lefevre syndrome | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:persistent bleeding after trauma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:persistent bleeding after trauma | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:phenotype is classically defined as aplasia cutis and transverse limb defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype is classically defined as aplasia cutis and transverse limb defects | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:phenotypic overlap with frontotemporal dementia (600274) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with frontotemporal dementia (600274) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:poland syndrome can be associated with moebius syndrome (157900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poland syndrome can be associated with moebius syndrome (157900) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:polg mutations account for approximately 45% of all peo cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:polg mutations account for approximately 45% of all peo cases | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:polyps occur in teens n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:polyps occur in teens | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:possible favorable response to ketogenic diet n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible favorable response to ketogenic diet | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:preferably treated with iodine supplementation rather than thyroid hormone replacement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:prevalence estimated at 1 in 50,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence estimated at 1 in 50,000 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 10,000 african-americans n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 10,000 african-americans | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:prevalence of 1 in 28,000 caucasians n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 28,000 caucasians | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:prevalence of 19 in 1,000,000 in sweden n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 19 in 1,000,000 in sweden | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:prevalence ranges from 1 in 12,000 to 1 in 50,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:primarily diagnosed in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:primarily diagnosed in females | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:progressive disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive disorder | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:protracted course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:protracted course | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:rapidly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapidly progressive | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:rare survival to teens n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rare survival to teens | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:recessive inheritance is rare n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recessive inheritance is rare | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:recurrent bacterial infections beginning in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recurrent bacterial infections beginning in childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:reduced fetal movement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced fetal movement | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:relatively mild cutis laxa, associated with severe vascular abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relatively mild cutis laxa, associated with severe vascular abnormalities | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:reported in individuals of amish or mennonite descent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported in individuals of amish or mennonite descent | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:risk of affected offspring in paternal translocation carrier - 0-7% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk of affected offspring in paternal translocation carrier - 0-7% | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also autosomal dominant giant axonal neuropathy (610100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant giant axonal neuropathy (610100) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also autosomal dominant robinow syndrome (180700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant robinow syndrome (180700) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also autosomal form, 146450, and another x-linked form, 300758 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal form, 146450, and another x-linked form, 300758 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also autosomal recessive sick sinus syndrome (sss1, 608567) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also cbld (277410) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also cbld (277410) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also dyssegmental dysplasia, silverman-handmaker type (224410) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also familial developmental dysphasia (600117) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also familial developmental dysphasia (600117) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also pseudohypoparathyroidism type ia (103580) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also pseudohypoparathyroidism type ia (103580) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also two x-linked forms 300633 and 300758 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also two x-linked forms 300633 and 300758 | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see also x-linked edmd (310300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also x-linked edmd (310300) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see cmt4a (214400) for autosomal recessive demyelinating forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see cmt4a (214400) for autosomal recessive demyelinating forms | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see ebn1 (121200) for an autosomal dominant form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see ebn1 (121200) for an autosomal dominant form | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:see recessive form optb4 (611490) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see recessive form optb4 (611490) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:seizure severity and frequency tend to improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizure severity and frequency tend to improve with age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:seizures usually occur in the first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures usually occur in the first months of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:seizures, recurrent, refractory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures, recurrent, refractory | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:severe disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe disorder | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:severe infantile form presents before 6 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe infantile form presents before 6 months | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:severity of clinical phenotype varies both within and between kindreds n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severity of clinical phenotype varies both within and between kindreds | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:sexual infantilism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sexual infantilism | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:significant number of patients are stillborn or die in neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:significant number of patients are stillborn or die in neonatal period | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:six patients have been reported (as of july 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:six patients have been reported (as of july 2011) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:six patients have been reported (as of october 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:six patients have been reported (as of october 2011) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:skeletal and facial features are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skeletal and facial features are variable | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:skin lesions manifest in the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesions manifest in the first year of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:skin lesions tend to occur on distal extremities or at elbows and knees n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesions tend to occur on distal extremities or at elbows and knees | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:skin manifestation less frequently observed in cold climates n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin manifestation less frequently observed in cold climates | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:sleep disturbance or sleep apnea (obstructive, central, or mixed) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:sleepwalking triggered by alcohol, sleep deprivation, stress n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sleepwalking triggered by alcohol, sleep deprivation, stress | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:slowly progressive disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slowly progressive disease | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some affected family members are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some affected family members are asymptomatic | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some patients can hold menial jobs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients can hold menial jobs | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some patients have milder persistent blistering n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have milder persistent blistering | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some patients have no manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have no manifestations | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some patients may have isolated cardiac involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may have isolated cardiac involvement | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some patients may have residual muscle weakness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may have residual muscle weakness | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some patients show infantile onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show infantile onset | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some patients with advanced loss of vision have normal eog n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients with advanced loss of vision have normal eog | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:spectrum of laterality defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spectrum of laterality defects | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:spinal tumors are necessary for diagnosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spinal tumors are necessary for diagnosis | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:splenectomy increases thrombotic risk in these patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:splenectomy increases thrombotic risk in these patients | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:subclavian artery supply disruption in embryogenesis has been suggested as etiology n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:subset of patients have cytochrome c oxidase deficiency (see 220110) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:successful treatment with oral isotretinoin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:successful treatment with oral isotretinoin | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:sudden death within first days of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden death within first days of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:survival to 5-15 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survival to 5-15 years of age | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:symptomatic female carriers have been described in 1 japanese family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptomatic female carriers have been described in 1 japanese family | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:symptoms benefit from sleep n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms benefit from sleep | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:symptoms develop immediately after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms develop immediately after birth | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:symptoms improve following sleep n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms improve following sleep | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:symptoms precipitated by exercise and excitement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms precipitated by exercise and excitement | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:symptoms remain focal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms remain focal | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:symptoms resolve over weeks to months with usually no residual symptoms between attacks n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:symptoms worsen with fatigue and exercise n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms worsen with fatigue and exercise | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:systemic iron overload due to ineffective erythropoiesis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:systemic iron overload due to ineffective erythropoiesis | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:the lower the s-ado:saicar ratio, the more severe the phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the lower the s-ado:saicar ratio, the more severe the phenotype | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:three amish patients have been reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three amish patients have been reported (as of february 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:three families have been reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:three patients from 2 unrelated families have been reported (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients from 2 unrelated families have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:three unrelated families have been reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:three unrelated families have been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:thromboembolism is the most common cause of death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:thromboembolism is the most common cause of death | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:treatment with coq10 may result in some clinical improvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with coq10 may result in some clinical improvement | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:treatment with sulfonylurea can be effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with sulfonylurea can be effective | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:tremor may be elicited by movement or postural maintenance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tremor may be elicited by movement or postural maintenance | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:tumors are microsatellite stable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tumors are microsatellite stable | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:tumors may show spontaneous regression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tumors may show spontaneous regression | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two families described (last curated july 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families described (last curated july 2013) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two families have been reported (last curated december 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (last curated december 2013) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two families have been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two patients with point mutations in rad21 have been reported (last curated july 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two sibs, a boy and a girl, have been reported (as of july 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs, a boy and a girl, have been reported (as of july 2009) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated chinese families have been reported (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated chinese families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated consanguineous families have been reported (last curated january 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated consanguineous families have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (as of october 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (as of october 2010) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated august 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated november 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated families have been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated december 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated december 2010) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated october 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated october 2012) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:two unrelated patients have been reported (last curated october 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated october 2013) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:type 2b is characterized by increased affinity for platelet glycoprotein 1b n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:type ii is progressive and leads to shortened lifespan n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type ii is progressive and leads to shortened lifespan | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:unusual skill with jigsaw puzzle n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:unusual skill with jigsaw puzzle | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:upper limb involvement in first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:upper limb involvement in first decade | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:ush3 cases account for 40% of all usher patients in finland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ush3 cases account for 40% of all usher patients in finland | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:usually occurs in children younger than 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually occurs in children younger than 5 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:usually symptomatic in adulthood with history of weakness since infancy or childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable abnormalities | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable age at onset (childhood to adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (childhood to adult) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range adolescence to late adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range adolescence to late adulthood) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable age at onset (range birth to teenage years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range birth to teenage years) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable age at onset, mostly in third decade (range teenage years to fourth decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable age at onset, ranging from 18 months to 27 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, ranging from 18 months to 27 years | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable age of onset (range first to third decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (range first to third decade) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable age of onset, from early childhood to seventh decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset, from early childhood to seventh decade of life | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable clinical presentation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable clinical presentation | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable expression and severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expression and severity | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable locations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable locations | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable penetrance and expressivity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable penetrance and expressivity | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable phenotypic features cataloged depending on development of fetus or infant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotypic features cataloged depending on development of fetus or infant | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable response to steroid treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable response to steroid treatment | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable response to vitamin b12 therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable response to vitamin b12 therapy | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable severity (in patients with hsan2d) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity (in patients with hsan2d) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:vast majority of heterozygotes are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:vast majority of heterozygotes are asymptomatic | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:visual acuity better than anticipated from ophthalmoscopic appearance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:visual acuity better than anticipated from ophthalmoscopic appearance | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:waddling gait n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:waddling gait | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:when present, onset of vestibular dysfunction in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:when present, onset of vestibular dysfunction in childhood | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:wide clinical variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wide clinical variability | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:worsening of hand weakness with cold (in some) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:worsening of hand weakness with cold (in some) | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:x-linked inheritance could not be ruled out n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:x-linked inheritance could not be ruled out | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 29 / 0.674 -> en:young-adult onset (18-30 years) of sensory ataxia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:young-adult onset (18-30 years) of sensory ataxia | rel=r_associated | relid=0 | w=29 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:2-3% due to imprinting defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:2-3% due to imprinting defects | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:2% due to paternal uniparental disomy of 15q11.2-q13 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:2% due to paternal uniparental disomy of 15q11.2-q13 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:3 reported cases, 1 pedigree of affected sibs, neither parent affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:46,xx carriers are unaffected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:46,xx carriers are unaffected | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:85-90% with manifestations in first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:85-90% with manifestations in first months of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:a minority of patients have onset after age 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a minority of patients have onset after age 30 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:a nonspecific marker of somatic mosaicism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a nonspecific marker of somatic mosaicism | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:a pair of monozygotic twins have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a pair of monozygotic twins have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:a subgroup of patients with sponastrime dysplasia have severe mental retardation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:a subset of patients are responsive to vitamin b12 therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a subset of patients are responsive to vitamin b12 therapy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:acquired autoimmune disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acquired autoimmune disorder | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:acral hemorrhagic variant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acral hemorrhagic variant | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult form is asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult form is asymptomatic | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult onset - 100-1,000 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset - 100-1,000 repeats | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult onset (20 to 40 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (20 to 40 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult onset (mean of 30 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (mean of 30 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult onset (range 14 to 70 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (range 14 to 70 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult onset (range 34 to 66 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (range 34 to 66 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult onset (third decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (third decade) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult onset of gait abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset of gait abnormalities | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult onset of neurologic symptoms (range 30 to 46 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset of neurologic symptoms (range 30 to 46 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult onset of symptoms has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset of symptoms has been reported | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:adult-onset is referred to as small fiber neuropathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult-onset is referred to as small fiber neuropathy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:affected fetuses frequently undergo spontaneous abortion n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected fetuses frequently undergo spontaneous abortion | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:affected infants appear normal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected infants appear normal | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:age at diagnosis 2-4 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at diagnosis 2-4 months | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:age at onset ranges from neonatal to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset ranges from neonatal to adulthood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:age of onset 43-64 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 43-64 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:age of onset third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset third decade | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:age of onset varies from 5-32 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset varies from 5-32 years of age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:age:time:pt:^egg donor:qn n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age:time:pt:^egg donor:qn | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:all cases have been sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all cases have been sporadic | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:all cases have been stillborn or immediate neonatal death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all cases have been stillborn or immediate neonatal death | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to cln8 (600143) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to cln8 (600143) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to nf1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to nf1 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to opitz-kaveggia syndrome (305450) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to opitz-kaveggia syndrome (305450) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to parkinson disease-1 (park1, 168601) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to parkinson disease-1 (park1, 168601) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic disorder to the ivic syndrome (147750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to the ivic syndrome (147750) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to anterior segment mesenchymal dysgenesis (107250) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to anterior segment mesenchymal dysgenesis (107250) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to bardet-biedl syndrome 6 (209900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to bardet-biedl syndrome 6 (209900) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to brachydactyly, type a2 (112600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to brachydactyly, type a2 (112600) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to craniometaphyseal dysplasia (123000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to craniometaphyseal dysplasia (123000) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to dentin dysplasia, type 2 (125420) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to dentin dysplasia, type 2 (125420) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to hand osteoarthritis (607850) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to hand osteoarthritis (607850) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to neurofibromatosis-1 (nf1, 162200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to neurofibromatosis-1 (nf1, 162200) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to noonan syndrome (163950) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to noonan syndrome (163950) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:allelic to trp1 (190350) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to trp1 (190350) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:aortic dissection may occur in second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:aortic dissection may occur in second decade of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:approximately 12 patients have been reported (as of march 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 12 patients have been reported (as of march 2010) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:approximately half of cases are due to unbalanced rearrangements, which may be familial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:associated with the tau (157140) h1 haplotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with the tau (157140) h1 haplotype | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:asymmetric muscle involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:asymmetric muscle involvement | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:attacks triggered by catabolic stress, such as fever or illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks triggered by catabolic stress, such as fever or illness | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:atypical hemolytic-uremic syndrome shows onset in first 12 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive cytochrome b-positive cgd, type ii n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive cytochrome b-positive cgd, type ii | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive form (277720) has also been described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive form (277720) has also been described | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance has been reported | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:autosomal recessive inheritance has been reported in 1 family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance has been reported in 1 family | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:average age at onset 31 years (range 7 to 54) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at onset 31 years (range 7 to 54) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:average age at onset is 24 years (range 4 to 58 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at onset is 24 years (range 4 to 58 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:average age of onset 6 months (range birth - 2 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age of onset 6 months (range birth - 2 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:average onset 6-10 months (range 3-24) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average onset 6-10 months (range 3-24) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:based on 1 reported family with oca6 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 reported family with oca6 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:based on 1 uruguayan family (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 uruguayan family (last curated april 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:based on 3 patients from 2 families (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 3 patients from 2 families (last curated january 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:based on description of 1 family (last curated april 2006) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on description of 1 family (last curated april 2006) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:based on four patients in a four generation family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on four patients in a four generation family | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:based on one 4-generation italian family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one 4-generation italian family (last curated august 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:based on report of one polish roma patient (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of one polish roma patient (last curated november 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:based on the report of 1 japanese family (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on the report of 1 japanese family (last curated july 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:bone abnormalities improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bone abnormalities improve with age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:both demyelinating and axonal features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both demyelinating and axonal features | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:both heterozygous and homozygous mutations have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both heterozygous and homozygous mutations have been reported | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:bullae are located randomly in familial cases and apical in sporadic cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bullae are located randomly in familial cases and apical in sporadic cases | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:can be treated by bone marrow transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:can be treated by bone marrow transplantation | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:candidiasis is usually the first symptom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:candidiasis is usually the first symptom | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:cardiac features are observed in ~3% of cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cardiac features are observed in ~3% of cases | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:cataracts may be subclinical in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cataracts may be subclinical in some patients | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:childhood onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood onset | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:childhood or adolescent onset, protracted, with myopathy and neuropathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:clubfoot is bilateral in most patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clubfoot is bilateral in most patients | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:common in afrikaan population, south africa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:common in afrikaan population, south africa | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:common in japan and other asian populations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:common in japan and other asian populations | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:complete absence of melanin synthesis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complete absence of melanin synthesis | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:complete penetrance with variable expressivity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complete penetrance with variable expressivity | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:complete recovery during intervals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complete recovery during intervals | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:cone-shaped epiphyses usually not present before age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cone-shaped epiphyses usually not present before age 2 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:congenital abnormality n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital abnormality | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:de novo mutation in some cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:de novo mutation in some cases | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:deafness tends to occur before other neurologic signs, except in patients with very early onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death before age 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death before age 3 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death before age 40 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death before age 40 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death by age 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death by age 3 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death from stroke if untreated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death from stroke if untreated | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death in childhood may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in childhood may occur | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death in early childhood has been reported in some presumed homozygotes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in early childhood has been reported in some presumed homozygotes | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death in fourth to fifth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in fourth to fifth decade | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death in infancy (1 patient) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy (1 patient) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death in infancy due to hyperthermia or apnea n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy due to hyperthermia or apnea | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death in infancy in 2 patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in infancy in 2 patients | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death in the mid-twenties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in the mid-twenties | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death in untreated children n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in untreated children | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death in utero or early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in utero or early infancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death usually in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in infancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death usually in newborn period or infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in newborn period or infancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death usually occurs in the first weeks to months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually occurs in the first weeks to months of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:death usually within first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually within first year of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:delayed separation of umbilical cord n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:delayed separation of umbilical cord | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:deletions in naip gene (600355) found in 18% of sma2 patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:deletions in naip gene (600355) found in 18% of sma2 patients | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:die at birth or shortly after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:die at birth or shortly after birth | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:disorder usually remains stable over time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disorder usually remains stable over time | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:distinct disorder from familial erythrocytosis (ecyt1, 133100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:dramatic improvement with proper treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dramatic improvement with proper treatment | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:dysmorphic facial features are subtle n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dysmorphic facial features are subtle | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:dysmorphic features may be subtle n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dysmorphic features may be subtle | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:early age of onset, usually less than 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early age of onset, usually less than 3 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:early death (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death (in some patients) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:early onset has rarely been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early onset has rarely been reported | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:end-stage renal failure in first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:end-stage renal failure in first decade | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:enterocolitis tends to remit with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:enterocolitis tends to remit with age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:episodes tend to decrease with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes tend to decrease with age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:episodes usually last 1 to 2 days n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes usually last 1 to 2 days | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:estimated prevalence of 1 in 16,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:estimated prevalence of 1 in 16,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:evidence of systemic iron overload seen in 1 family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:evidence of systemic iron overload seen in 1 family | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:exacerbation following stress, decreased food intake, or alcohol use n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:exacerbation following stress, decreased food intake, or alcohol use | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:exacerbation of symptoms during or after pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:exacerbation of symptoms during or after pregnancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:exacerbations during infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:exacerbations during infection | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:exon 7 of smn1 is absent in 95.6% of sma1 patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:favorable initial response to l-dopa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable initial response to l-dopa | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:favorable response of episodic attacks to acetazolamide n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response of episodic attacks to acetazolamide | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:favorable response to anticonvulsants n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to anticonvulsants | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:favorable response to antiepileptic medication n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to antiepileptic medication | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:favorable response to clonazepam n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to clonazepam | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:favorable response to flunarizine n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to flunarizine | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:favorable response to l-dopa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to l-dopa | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:febrile seizures show onset between 6 months and 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:febrile seizures show onset between 6 months and 3 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:feeding difficulties, including aspiration, ameliorate with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:feeding difficulties, including aspiration, ameliorate with age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:female carriers may have cardiac defects n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have cardiac defects | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:female carriers may have mild mental retardation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have mild mental retardation | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:female to male ratio 5:1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female to male ratio 5:1 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:female to male ratio 8-13:1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female to male ratio 8-13:1 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:few patients with mild to moderate mental retardation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:few patients with mild to moderate mental retardation | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:first fracture in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:first fracture in early childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:five reported patients, all boys (as of july 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five reported patients, all boys (as of july 2009) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:for similar autosomal recessive form, see cln4 (204300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:for similar autosomal recessive form, see cln4 (204300) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:four clinical forms of krabbe disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four clinical forms of krabbe disease | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:four patients from 3 families have been reported (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients from 3 families have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:four patients reported (last curated april 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients reported (last curated april 2013) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:frequency 1/100,000 - 1/130,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequency 1/100,000 - 1/130,000 live births | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:gait difficulties and beginning of cognitive decline in first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gait difficulties and beginning of cognitive decline in first decade | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:generalized dystonia in some cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:generalized dystonia in some cases | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 116800 for summary) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 116800 for summary) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 145410) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 145410) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 192600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 192600) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 214300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 214300) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 259700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 259700) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 605407) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 605407) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see 610168) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 610168) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see bscl2, 269700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see bscl2, 269700) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see cmtdia 606483) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cmtdia 606483) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see gefs+, 604233) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see gefs+, 604233) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see madb, 608612) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see madb, 608612) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:genetic heterogeneity, see evr1 (133780) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see evr1 (133780) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:good response to steroid treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to steroid treatment | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:great variation in extent of hypertrophy in mutation-positive individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:great variation in extent of hypertrophy in mutation-positive individuals | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:green color resolves if cholestasis is treated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:green color resolves if cholestasis is treated | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:hearing loss affects all frequencies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss affects all frequencies | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:hearing loss and ocular findings are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss and ocular findings are variable | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:heterozygotes are not affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes are not affected | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:high frequency of de novo mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency of de novo mutations | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:high incidence in sweden and finland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high incidence in sweden and finland | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:high recurrence rate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high recurrence rate | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:high risk of death in infancy due to cardiac failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high risk of death in infancy due to cardiac failure | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:highly penetrant, but low morbidity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly penetrant, but low morbidity | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:highly variable phenotype, ranging from asymptomatic to severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype, ranging from asymptomatic to severe | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:hip joint replacement often necessary n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hip joint replacement often necessary | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:histologic features overlap with henoch-schonlein purpura (hspn) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:histologic features overlap with henoch-schonlein purpura (hspn) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:homozygotes have more severe disease with earlier onset of thrombosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:homozygotes have more severe disease with earlier onset of thrombosis | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:icelandic families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:icelandic families | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:immunosuppressive therapy may be beneficial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:immunosuppressive therapy may be beneficial | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:impaired healing n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:impaired healing | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:inborn error of the pyrimidine degradation pathway n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:inborn error of the pyrimidine degradation pathway | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence 1 in 20,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1 in 20,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence 1 in 6,000 to 1 in 8,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1 in 6,000 to 1 in 8,000 live births | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence 8/1,000 newborns n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 8/1,000 newborns | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence approximately 2-3/10,000 newborns n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence approximately 2-3/10,000 newborns | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 10,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 10,000 live births | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 120,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 120,000 live births | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 276,000 in the netherlands n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 276,000 in the netherlands | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 5,000-8,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 5,000-8,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence of 1 in 57,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 57,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence of 1/100,000 in italy and finland n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1/100,000 in italy and finland | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence of all forms of cjd is 0.5 to 1.5 per million per year n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence of mh in anesthetized children is 1 in 15,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of mh in anesthetized children is 1 in 15,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incidence ranges from 1 in 238,095 to 1 in 300,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incomplete penetrance in carrier females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance in carrier females | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incomplete penetrance with 45 to 51 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance with 45 to 51 repeats | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:incomplete, age-associated penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete, age-associated penetrance | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:increased abortuses of homozygous or compound heterozygous fetuses n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased abortuses of homozygous or compound heterozygous fetuses | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:increased frequency in the state of bahia, brazil n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in the state of bahia, brazil | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:increased spontaneous abortions in carrier mothers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased spontaneous abortions in carrier mothers | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:increased susceptibility to multiple carcinomas n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased susceptibility to multiple carcinomas | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:infantile form accounts for 90% of cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infantile form accounts for 90% of cases | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:infants may die from apnea or aspiration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infants may die from apnea or aspiration | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:insidious onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:insidious onset | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:itch, pain, and body malodor often n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:itch, pain, and body malodor often | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:joint laxity decreases with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:joint laxity decreases with age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:juvenile myoclonic epilepsy (jme, 606904) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:juvenile myoclonic epilepsy (jme, 606904) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:later onset with a milder phenotype may also occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset with a milder phenotype may also occur | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:left side involvement more frequent than right side involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:left side involvement more frequent than right side involvement | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:leg pain during childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:leg pain during childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:lesions may become more prominent with sun exposure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lesions may become more prominent with sun exposure | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:lethal in 40% of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lethal in 40% of patients | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:limited clinical information due to surgical removal of lens in affected individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limited clinical information due to surgical removal of lens in affected individuals | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:limited clinical information provided n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:limited clinical information provided | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:liver size returns to normal after 3 months to 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:liver size returns to normal after 3 months to 3 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:long duration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:long duration | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:loss initially affects mid and high frequencies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:loss initially affects mid and high frequencies | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:lower limb involvement precedes upper limb involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lower limb involvement precedes upper limb involvement | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:majority of cases are male n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases are male | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:majority of cases are sporadic, often in tall, thin men n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases are sporadic, often in tall, thin men | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:majority of cases sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases sporadic | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:majority of individuals are healthy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of individuals are healthy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:majority of por deficiency patients have an abs-like phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of por deficiency patients have an abs-like phenotype | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:male-to-female ratio 3 to 1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male-to-female ratio 3 to 1 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:males are more commonly affected than females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males are more commonly affected than females | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:many patients become wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many patients become wheelchair-bound | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:many patients become wheelchair-bound by second or third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many patients become wheelchair-bound by second or third decade | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:many patients become wheelchair-bound later in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many patients become wheelchair-bound later in life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:many patients require cardiac pacemakers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many patients require cardiac pacemakers | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:marked clinical heterogeneity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked clinical heterogeneity | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:maternal oligohydramnios n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:maternal oligohydramnios | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:may be triggered by increased practice n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be triggered by increased practice | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:may be triggered by minor head trauma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be triggered by minor head trauma | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:may present in infancy with episodes of severe metabolic decompensation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may present in infancy with episodes of severe metabolic decompensation | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:may progress to other body regions after many years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may progress to other body regions after many years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:may progress to upper limbs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may progress to upper limbs | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mean age at onset 35 years (range 20-60) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 35 years (range 20-60) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mean age at onset of bone disease is 40 years (range 23-65) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset of bone disease is 40 years (range 23-65) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mean age of onset 14-24 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 14-24 months | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mean age of onset 20.6 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 20.6 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mean age of onset 56 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 56 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mecp2 mutations are those found in females with rett syndrome (312750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mecp2 mutations are those found in females with rett syndrome (312750) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:median age of onset of leukoplakia - 7 years (range 1-26 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:meiotic origin >95% maternal, mostly meiosis i n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:meiotic origin >95% maternal, mostly meiosis i | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mesomelia becomes more evident with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mesomelia becomes more evident with age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mild asymmetric regional disease (e.g. 180380.0029) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild asymmetric regional disease (e.g. 180380.0029) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:more common in men (9:1 male:female ratio) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more common in men (9:1 male:female ratio) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most cases result from de novo mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases result from de novo mutations | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most children become wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most children become wheelchair-bound | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most common disorder of fatty acid oxidation (1/13,000 births) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common disorder of fatty acid oxidation (1/13,000 births) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most common episodic ataxia syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common episodic ataxia syndrome | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most patients become wheelchair-bound in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients become wheelchair-bound in adolescence | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most patients die in the first months or years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die in the first months or years of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most patients have adult onset of symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients have adult onset of symptoms | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most patients need assistance walking or are wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients need assistance walking or are wheelchair-bound | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most remit by 6 weeks (1-6 months) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most remit by 6 weeks (1-6 months) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:most severe type of von willebrand disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most severe type of von willebrand disease | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:motor impairment more significant than sensory impairment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:motor impairment more significant than sensory impairment | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mulibrey is an acronym (muscle, liver, brain, and eyes) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:multiple spontaneous abortions in obligate carriers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:multiple spontaneous abortions in obligate carriers | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:muscle contractions in infancy occur in response to tactile stimulation or crying n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:muscle contractions in infancy occur in response to tactile stimulation or crying | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:muscle weakness occurs only in the presence of hyperthyroidism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:muscle weakness occurs only in the presence of hyperthyroidism | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:mutations occur de novo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutations occur de novo | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:neonatal death secondary to pulmonary insufficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal death secondary to pulmonary insufficiency | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:neurologic findings closely resemble those of huntington disease (hd, 143100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:ninety percent of cases are female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ninety percent of cases are female | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:no clinical manifestations were noted (incidental laboratory finding) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no clinical manifestations were noted (incidental laboratory finding) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:no mutations reported in la reunion island patients (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no mutations reported in la reunion island patients (last curated august 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:no neurologic sequelae n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no neurologic sequelae | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:no recurrence of nephrotic syndrome after transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no recurrence of nephrotic syndrome after transplantation | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:non-progressive and more severe progressive forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:non-progressive and more severe progressive forms | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:nonsyndromic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonsyndromic disorder | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:not all patients have skeletal muscle symptoms or mental retardation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:not all patients have skeletal muscle symptoms or mental retardation | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:obligatory heterozygotes are clinically unaffected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:obligatory heterozygotes are clinically unaffected | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:often reared as females until puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often reared as females until puberty | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:often unilateral involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:often unilateral involvement | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one consanguineous family has been reported (last curated june 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one consanguineous pakistani family has been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (as of 4/2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of 4/2010) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (as of april 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (as of january 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of january 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated december 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated december 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated february 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated june 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated june 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family has been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family reported with piezo2 mutation (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported with piezo2 mutation (last curated january 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family with 3 affected males has been reported (as of october 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 3 affected males has been reported (as of october 2011) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family with 4 affected sibs has been reported (as of april 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 4 affected sibs has been reported (as of april 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one japanese patient has been reported (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one japanese patient has been reported (last curated september 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one large 3-generation irish family has been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large 3-generation irish family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one large italian kindred has been reported (last curated november 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large italian kindred has been reported (last curated november 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one male patient has been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one male patient has been reported (last curated september 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one of the 2 most common forms of albinism in the world, along with oca2 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one of the 2 most common forms of albinism in the world, along with oca2 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one pakistani family has been reported (last curated october 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one pakistani family has been reported (last curated october 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one pakistani family reported (last curated november 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one pakistani family reported (last curated november 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one patient died at 17 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient died at 17 months of age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated january 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated january 2010) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one patient has been reported (last curated november 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated november 2010) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:one patient with episodic ataxia and later onset has been reported (as of june 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:only apparent in patients taking eculizumab n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:only apparent in patients taking eculizumab | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset 10-20 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 10-20 years of age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset age 14-28 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset age 14-28 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset at 5-24 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at 5-24 months | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset at birth or early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at birth or early infancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset before 10 years of age in all patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before 10 years of age in all patients | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset before age 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before age 3 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset between 15 and 27 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 15 and 27 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset between age 4 to 7 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between age 4 to 7 months | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset between ages 10 and 25 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between ages 10 and 25 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset between ages 16-55 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between ages 16-55 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in adulthood (third to fourth decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in adulthood (third to fourth decade) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in childhood (6-7 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (6-7 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in childhood (range 1 to 12 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (range 1 to 12 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in childhood or early adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or early adolescence | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in childhood or teenage years (7 to 16 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or teenage years (7 to 16 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in childhood, but most noticeable in mid-teens and early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood, but most noticeable in mid-teens and early adulthood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in early childhood (4 to 5 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early childhood (4 to 5 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in early childhood after initial normal development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early childhood after initial normal development | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in early infancy (2 to 3 months of age) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early infancy (2 to 3 months of age) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in first decade (range 1 to 9 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade (range 1 to 9 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in first months or years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first months or years of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in first weeks to months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first weeks to months of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in infancy (3 months on) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy (3 months on) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in infancy or childhood (range 1 to 13 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or childhood (range 1 to 13 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or early childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in infancy or early childhood (birth to 6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or early childhood (birth to 6 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in late childhood or adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late childhood or adulthood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in neonatal period or early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in neonatal period or early infancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in teens to late twenties (range 14 to 44 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in teens to late twenties (range 14 to 44 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset in the perinatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the perinatal period | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset may be prelingual or in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset may be prelingual or in childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset mid to late adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset mid to late adulthood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset occurs earlier in males than females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset occurs earlier in males than females | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of alopecia in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of alopecia in infancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of blistering skin in infancy with improvement over time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of blistering skin in infancy with improvement over time | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of choreoathetosis in childhood or young adult (6-23 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of choreoathetosis in childhood or young adult (6-23 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of choroideremia in second to third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of choroideremia in second to third decade | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of dementia in the thirties or forties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of dementia in the thirties or forties | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of diabetes in neonatal period/ early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of diabetes in neonatal period/ early infancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of encephalopathy between ages 2 and 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of encephalopathy between ages 2 and 3 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of episodic liver failure in first 2 years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of episodic liver failure in first 2 years of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of fracture usually when child begins to walk n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of fracture usually when child begins to walk | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of gaze palsy at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of gaze palsy at birth | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of kyphosis in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of kyphosis in childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of major clinical features in young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of major clinical features in young adulthood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of osteoarthritis in teens to early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of osteoarthritis in teens to early adulthood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of seizures ranges from 2 to 11 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures ranges from 2 to 11 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of sleepwalking between 4 and 8 years old n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of sleepwalking between 4 and 8 years old | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of symptoms 2-12 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms 2-12 months | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of symptoms in second or third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in second or third decade | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset of tremor usually before onset of seizures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of tremor usually before onset of seizures | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset second decade of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset usually before age 40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually before age 40 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset usually in childhood (range infancy to late childhood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in childhood (range infancy to late childhood) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset usually in childhood or adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in childhood or adolescence | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset usually in infancy although later onset may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in infancy although later onset may occur | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset usually in mid-teens, average 15 years (range 2 to 20 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:onset usually in the neck n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in the neck | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:pain is relieved by antiinflammatory medication n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pain is relieved by antiinflammatory medication | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:part of 'dent disease complex' (see 300009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:part of 'dent disease complex' (see 300009) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:pathogenic alleles contain 52 to 86 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pathogenic alleles contain 52 to 86 repeats | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients are 46,xy individuals who may be phenotypically female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients are 46,xy individuals who may be phenotypically female | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients are born with normal head circumference n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients are born with normal head circumference | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients are often of mediterranean origin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients are often of mediterranean origin | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients are severely disabled as adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients are severely disabled as adults | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients are susceptible to sepsis and dehydration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients are susceptible to sepsis and dehydration | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients have a distinctive shallow u-shaped audiogram n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients have a distinctive shallow u-shaped audiogram | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients may become wheelchair-bound as adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may become wheelchair-bound as adults | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients may present with either renal or neurologic symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may present with either renal or neurologic symptoms | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients remain ambulatory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients remain ambulatory | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients require achilles tendon lengthening in first or second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients require achilles tendon lengthening in first or second decade of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients walk on tips of toes with dorsal foot deviated laterally n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients walk on tips of toes with dorsal foot deviated laterally | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:patients with meb may acquire ability to walk and a few words n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with meb may acquire ability to walk and a few words | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:peak age of onset in second decade (range childhood to 76 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:peak age of onset in second decade (range childhood to 76 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:penetrance estimated to be 80% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:penetrance estimated to be 80% | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:phenotype may or may not be consistent within a family. n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype may or may not be consistent within a family. | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:phenotypic overlap with parkinson disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with parkinson disease | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:phenotypic similarities to leigh syndrome (256000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic similarities to leigh syndrome (256000) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:phenotypically indistinguishable from hemophilia a (306700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypically indistinguishable from hemophilia a (306700) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:pigment does not develop with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pigment does not develop with age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:poor response to acetylcholinesterase inhibitors n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poor response to acetylcholinesterase inhibitors | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:poor response to acetylcholinesterase inhibitors or cholinergic agents n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:possible genetic heterogeneity (linkage to xp22 in some families) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible genetic heterogeneity (linkage to xp22 in some families) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:postlingual onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:postlingual onset | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:presentation in first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation in first year of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:presents as early-onset strokes in 43% of patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presents as early-onset strokes in 43% of patients | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:prevalence 1-2% in northern european populations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence 1-2% in northern european populations | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:prevalence in poland is 1 in 129,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence in poland is 1 in 129,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:prevalence is estimated to be 1 in 1,100,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence is estimated to be 1 in 1,100,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 200,000 to 1 in 800,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 200,000 to 1 in 800,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 28,000 african-americans n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 28,000 african-americans | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 3,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 3,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 30,000 in northern europe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 30,000 in northern europe | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 300,000 in quebec n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 300,000 in quebec | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:prevalence of 1 in 70,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 70,000 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:progression to profound hearing loss affecting all frequencies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progression to profound hearing loss affecting all frequencies | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:progressive disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive disease | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:progressive disorder, with older patients exhibiting more severe symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive disorder, with older patients exhibiting more severe symptoms | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:psychomotor delay may already be apparent at onset of seizures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:psychomotor delay may already be apparent at onset of seizures | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:pyogenic arthritis, pyoderma gangrenosum and acne n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pyogenic arthritis, pyoderma gangrenosum and acne | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:pyridoxine responsive individuals often have milder manifestations than those not responsive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:rapidly progressive episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapidly progressive episodes | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:rare adult onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rare adult onset | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:rarely reported in infants n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rarely reported in infants | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:reference lab test method:type:time reported elsewhere:reference lab test:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:reported cases all sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported cases all sporadic | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:reported in 2 sibs (february 1991) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported in 2 sibs (february 1991) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:resembles pseudo-torch syndrome (251290) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:resembles pseudo-torch syndrome (251290) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:risk of death due to cardiac dysfunction n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk of death due to cardiac dysfunction | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:risk of thromboembolic stroke n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk of thromboembolic stroke | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:see also cblc (277400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also cblc (277400) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:see also later childhood-onset form (300718) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also later childhood-onset form (300718) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:see also mmab (251110) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also mmab (251110) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:see also x-linked (310400) and autosomal dominant (160150) forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also x-linked (310400) and autosomal dominant (160150) forms | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:segmental distribution often affecting 1 limb n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:segmental distribution often affecting 1 limb | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:seizures are refractory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are refractory | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:seizures are usually refractory at first n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures are usually refractory at first | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:seizures may remit later in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may remit later in childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:seizures precipitated by fatigue or alcohol n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:seizures tend to occur upon awakening n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures tend to occur upon awakening | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:seizures usually remit spontaneously by 12 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures usually remit spontaneously by 12 months of age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:severe clinical course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe clinical course | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:severe course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe course | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:severe form with onset at 3 to 4 months of age and severe developmental delay n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe form with onset at 3 to 4 months of age and severe developmental delay | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:severity of phenotype is not related to residual enzyme activity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severity of phenotype is not related to residual enzyme activity | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:short limbs become more apparent during childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:short limbs become more apparent during childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:short stepped shuffling gait n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:short stepped shuffling gait | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:short survival (less than 10 years after onset) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:short survival (less than 10 years after onset) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:sib a developed symptoms after routine mmr vaccination n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sib a developed symptoms after routine mmr vaccination | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:signs and symptoms depend on tumor location and activity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:signs and symptoms depend on tumor location and activity | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:single umbilical artery n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:single umbilical artery | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:six patients from 1 saudi arabian family have been reported (last curated december 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:six patients have been reported (5/18/2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:six patients have been reported (5/18/2011) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:skin lesions are fully penetrant by second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesions are fully penetrant by second decade | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:slightly increased female:male ratio (1.4:1 to 2:1) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slightly increased female:male ratio (1.4:1 to 2:1) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:slowly or nonprogressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slowly or nonprogressive | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:slowly progressive or nonprogressive course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slowly progressive or nonprogressive course | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:small placenta n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:small placenta | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some features are variably present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some features are variably present | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients are asymptomatic and detected only by newborn screening n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients are asymptomatic and detected only by newborn screening | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients develop ophthalmoplegia in middle age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients develop ophthalmoplegia in middle age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients do not have bone disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients do not have bone disease | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients do not manifest renal disease in the first decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients do not manifest renal disease in the first decade of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients experience later reversal of hypogonadotropic hypogonadism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients experience later reversal of hypogonadotropic hypogonadism | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients have a crouzon-like appearance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have a crouzon-like appearance | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients have a severe phenotype with neurologic manifestations beginning at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients have no clinical symptoms and are detected by routine newborn screening n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have no clinical symptoms and are detected by routine newborn screening | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients have only ocular involvement or only oral involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have only ocular involvement or only oral involvement | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients may be clinically asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may be clinically asymptomatic | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients may develop concurrent failure to thrive and dyslipidemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may develop concurrent failure to thrive and dyslipidemia | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients may have a milder phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may have a milder phenotype | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients may have isolated myokymia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may have isolated myokymia | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients may present with adult-onset small fiber neuropathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may present with adult-onset small fiber neuropathy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients may show mild decrease in head circumference over time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may show mild decrease in head circumference over time | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients survive infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients survive infancy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:some people with a cnnm2 mutation are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some people with a cnnm2 mutation are asymptomatic | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:spontaneous resolution usually after 12 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneous resolution usually after 12 months of age | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:sporadic cases often single lesions versus multiple lesions in familial cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sporadic cases often single lesions versus multiple lesions in familial cases | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:stage ii, rapid developmental regression (onset 1-4 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stage ii, rapid developmental regression (onset 1-4 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:stage iii, pseudostationary period (onset 2-10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stage iii, pseudostationary period (onset 2-10 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:subtype 3a comprises myoclonus and dementia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subtype 3a comprises myoclonus and dementia | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:subtype of migraine with aura n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subtype of migraine with aura | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:survival to 20 years in severe form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survival to 20 years in severe form | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:susceptibility to infections start in the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:susceptibility to infections start in the first year of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:swelling starts to fade by age 30 years and gradually becomes unremarkable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:symptoms may be aggravated by acute illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms may be aggravated by acute illness | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:symptoms progress with worsening myopathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms progress with worsening myopathy | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:symptoms usually occur in adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms usually occur in adults | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:therapy-induced dyskinesias n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:therapy-induced dyskinesias | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:there are several subtypes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:there are several subtypes | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:thiamine supplementation may be beneficial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:thiamine supplementation may be beneficial | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:this patient died at age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:this patient died at age 2 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:three males in 1 family have been reported (last curated august 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three males in 1 family have been reported (last curated august 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:three patients (2 related) reported (last curated march 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients (2 related) reported (last curated march 2013) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:three patients have been described (last curated january 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients have been described (last curated january 2013) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:three patients have been reported (as of october 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients have been reported (as of october 2009) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:three sibs in one consanguineous iranian family have been described (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three sibs in one consanguineous iranian family have been described (last curated march 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:thyroid carcinoma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:thyroid carcinoma | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:treatment with oral coenzyme q may ameliorate symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with oral coenzyme q may ameliorate symptoms | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:treatment with serine and glycine replacement may alleviate features if started at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with serine and glycine replacement may alleviate features if started at birth | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:treatment with vitamin d and phosphate is effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with vitamin d and phosphate is effective | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two affected females have been reported (last curated november 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two affected females have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two brothers in a french family have been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two brothers in a french family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two chinese sisters and one chinese woman have been described (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two families have been reported (last curated april 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families have been reported (last curated april 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two families of french-canadian origin have been reported (last curated december 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families of french-canadian origin have been reported (last curated december 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two families reported (last curated february 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families reported (last curated february 2013) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two japanese brothers have been reported (as of september 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two japanese brothers have been reported (as of september 2011) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two japanese patients have been reported (last curated march 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two japanese patients have been reported (last curated march 2013) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two patients from 1 italian family have been reported (as of april 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients from 1 italian family have been reported (as of april 2010) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two patients required liver transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients required liver transplantation | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two probands have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two probands have been reported | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two siblings of consanguineous turkish parents have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two siblings of consanguineous turkish parents have been reported | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported (last curated july 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported (last curated september 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated september 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (as of june 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (as of june 2011) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients have been reported (last curated october 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients reported (last curated september 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients reported (last curated september 2012) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:two unrelated patients with epileptic encephalopathy have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients with epileptic encephalopathy have been reported | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:type 1 - associated with osteogenesis imperfecta (125490) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 1 - associated with osteogenesis imperfecta (125490) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:type 2 porencephaly is usually symmetrical and results from developmental malformation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:type 2n shows autosomal recessive inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 2n shows autosomal recessive inheritance | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years)) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years)) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:type iia tends to have more severe phenotype with earlier onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type iia tends to have more severe phenotype with earlier onset | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:upper limb involvement usually occurs later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:upper limb involvement usually occurs later | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:usually asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually asymptomatic | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:usually clinically asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually clinically asymptomatic | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:usually fatal in first 2 decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually fatal in first 2 decades | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:usually progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually progressive | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range 10 to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 10 to 50 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range 15 to 60 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 15 to 60 years) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range childhood to adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range childhood to adulthood) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age at onset (range infancy to young adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range infancy to young adult) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age at onset from childhood to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset from childhood to adulthood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age at onset, ranges from third to fifth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, ranges from third to fifth decade of life | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age at onset, ranging from childhood to late adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, ranging from childhood to late adulthood | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age at onset, usually in first decade, but can occur later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, usually in first decade, but can occur later | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age of onset (childhood to adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (childhood to adulthood) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable age of onset, ranging from 11 to 50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset, ranging from 11 to 50 years | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable cardiac phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable cardiac phenotype | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable features and severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable features and severity | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable phenotype, some patients have very mild symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype, some patients have very mild symptoms | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable phenotypic expression within same individual in each eye (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotypic expression within same individual in each eye (in some patients) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable presentation and manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable presentation and manifestations | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable severity between patients and between eyes (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity between patients and between eyes (in some patients) | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable severity of scaling and palmoplantar keratoderma n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity of scaling and palmoplantar keratoderma | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:variable severity, intrafamilial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity, intrafamilial | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:visual acuity varies from 20/20 to no light perception n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:visual acuity varies from 20/20 to no light perception | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:visual and hearing loss are slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:visual and hearing loss are slowly progressive | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 28 / 0.651 -> en:worldwide incidence of 1 in 185,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:worldwide incidence of 1 in 185,000 live births | rel=r_associated | relid=0 | w=28 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:(2) intermittent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:(2) intermittent | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:10% due to paternal deletion n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:10% due to paternal deletion | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:15% cases are familial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:15% cases are familial | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:50% of females have learning disability or mild mental retardation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:50% of females have learning disability or mild mental retardation | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:a second patient died at age 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a second patient died at age 3 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:about 15% of female carriers develop renal insufficiency in the second or third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 15% of female carriers develop renal insufficiency in the second or third decade | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:about 5% of patients have a history of febrile seizures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 5% of patients have a history of febrile seizures | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:absence of premature birth, low birthweight, and exposure to oxygen n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:absence of premature birth, low birthweight, and exposure to oxygen | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:acute attacks rarely occur before puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:acute attacks rarely occur before puberty | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:adult onset (range 40 to 60 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (range 40 to 60 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:adult onset has been rarely reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset has been rarely reported | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:adult onset has been reported (age 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset has been reported (age 50 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:affected infants often die in utero or in the postnatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected infants often die in utero or in the postnatal period | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:affected males are all result of new mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected males are all result of new mutation | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:affected males have onset of poor vision before the age of 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected males have onset of poor vision before the age of 2 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:age at onset ranges from childhood to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:age of onset - birth to 15 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset - birth to 15 months | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:age of onset 20-65 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 20-65 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:age of onset/diagnosis 12-35 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset/diagnosis 12-35 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to autosomal recessive form (224900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to autosomal recessive form (224900) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to benign hereditary chorea (118700), which is less severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to benign hereditary chorea (118700), which is less severe | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to northern epilepsy (610003) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to northern epilepsy (610003) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to primary erythermalgia (133020) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to primary erythermalgia (133020) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to rett syndrome (312750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to rett syndrome (312750) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to usher syndrome type 1f (602083) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to usher syndrome type 1f (602083) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to acrokeratosis verruciformis (101900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to acrokeratosis verruciformis (101900) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to deafness, autosomal recessive 23 (609533) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to deafness, autosomal recessive 23 (609533) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to kenny-caffey syndrome type 1 (244460) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to kenny-caffey syndrome type 1 (244460) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to mevalonic aciduria (610377) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to mevalonic aciduria (610377) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to multiple pterygium syndrome, lethal type (253290) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to multiple pterygium syndrome, lethal type (253290) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to pseudoachondroplasia (177170) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to pseudoachondroplasia (177170) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:antenatal onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:antenatal onset | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:apparent at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:apparent at birth | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:arrhythmias detected prenatally (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:arrhythmias detected prenatally (in some patients) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:arteriovenous malformations can occur throughout the body n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:arteriovenous malformations can occur throughout the body | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:associated with fragile x syndrome (309550) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with fragile x syndrome (309550) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:associated with increased paternal age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with increased paternal age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:asymptomatic if papillary zone is spared n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:asymptomatic if papillary zone is spared | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:attacks often drug-induced n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks often drug-induced | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:autosomal recessive cases tend to have a more severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive cases tend to have a more severe phenotype | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:autosomal recessive omodysplasia has also been described (258315) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive omodysplasia has also been described (258315) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:average age at diagnosis 17.8 years (range 2-35 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at diagnosis 17.8 years (range 2-35 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:average age at onset 18 years (range 15 to 25 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average age at onset 18 years (range 15 to 25 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:average disease duration of 7 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average disease duration of 7 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:average onset 6 months (range 3-9) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average onset 6 months (range 3-9) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on 1 reported patient (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 reported patient (last curated november 2013) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on 2 reports of 3 patients (last curated september 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 2 reports of 3 patients (last curated september 2012) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on a report of 2 affected male cousins (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on a report of 2 affected male cousins (last curated june 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on one 4-generation german family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one 4-generation german family (last curated august 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on report of 1 family (last curated december 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 family (last curated december 2012) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on report of 2 unrelated japanese girls (last curated october 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 2 unrelated japanese girls (last curated october 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on report of 3 unrelated children (last curated january 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 3 unrelated children (last curated january 2016) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on report of 4 patients from 1 family (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 4 patients from 1 family (last curated july 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:based on reports of one family and one patient (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on reports of one family and one patient (last curated december 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:birth incidence approximately 5.1 per million live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:birth incidence approximately 5.1 per million live births | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:bleeding after trauma or surgery n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bleeding after trauma or surgery | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:blindness episodes are not associated with fhm episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:blindness episodes are not associated with fhm episodes | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:blistering and erosions tend to occur on extensor surfaces or over bony prominences n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:blistering frequency may decrease with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:blistering frequency may decrease with age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:both heterozygous and homozygous pax3 mutations have been found n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both heterozygous and homozygous pax3 mutations have been found | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:both homozygous and heterozygous ednrb mutations have been found n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both homozygous and heterozygous ednrb mutations have been found | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:both reported cases survived beyond infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:both reported cases survived beyond infancy | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:brain anomalies variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:brain anomalies variable | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:breech presentation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:breech presentation | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:c10orf2 mutations account for approximately 35% of all peo cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:c10orf2 mutations account for approximately 35% of all peo cases | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:carrier frequency in finland 1/40 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier frequency in finland 1/40 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:carrier rate of 1 in 11 among old order amish n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier rate of 1 in 11 among old order amish | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:cheerful disposition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cheerful disposition | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:clinical and pathologic features of both demyelinating and axonal cmt n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical and pathologic features of both demyelinating and axonal cmt | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:clinical presentation varies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical presentation varies | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:clinical variation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical variation | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:clinically 'silent' nystagmus evident on eye movement recording in carrier females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:clinically unaffected heterozygotes may show changes on electroretinography n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinically unaffected heterozygotes may show changes on electroretinography | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:congenital linear skin defects may disappear within a few months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital linear skin defects may disappear within a few months of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:congenital reduction in visual acuity is nonprogressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital reduction in visual acuity is nonprogressive | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:considered a normal variant n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:considered a normal variant | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:cutaneous leiomyomas increase in number over time n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cutaneous leiomyomas increase in number over time | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death at birth or within first 2 years of life (severe form) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death at birth or within first 2 years of life (severe form) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death by age 2 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death by age 5 (infantile form) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death by age 5 (infantile form) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death from pneumonia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death from pneumonia | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death in first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in first months of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death in third or fourth decades, usually due to respiratory infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in third or fourth decades, usually due to respiratory infection | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death often by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often by age 2 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death often in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often in infancy | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death often in the teenage years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often in the teenage years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death often occurs during metabolic/acidotic crisis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often occurs during metabolic/acidotic crisis | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death usually in teenage years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in teenage years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death usually occurs in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually occurs in childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death within 3 months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death within 3 months of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death within 6 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death within 6 years after onset | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:death within first year of life in 25% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death within first year of life in 25% | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:described in single afrikaner family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:described in single afrikaner family | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:detected in 1/50,000 in neonatal screening programs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:detected in 1/50,000 in neonatal screening programs | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:development of afebrile seizures later in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:development of afebrile seizures later in childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:diabetes mellitus develops in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diabetes mellitus develops in adolescence | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:diabetes mellitus diagnosed between third and fifth decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diabetes mellitus diagnosed between third and fifth decades of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:diagnosis rarely made before the fourth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diagnosis rarely made before the fourth decade of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:disease is life-threatening if untreated n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disease is life-threatening if untreated | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:disorder may progress to involve a larger body area n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:disorder may progress to involve a larger body area | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:distinct disorder from myasthenia gravis (mg, 254200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:distinct disorder from myasthenia gravis (mg, 254200) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:dopa-responsive rigidity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dopa-responsive rigidity | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:dramatic late catch-up growth occurs in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dramatic late catch-up growth occurs in adolescence | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:dwarfism not detectable at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dwarfism not detectable at birth | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:dysmorphic facial features are variable n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dysmorphic facial features are variable | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:dysmorphic facial features may not be present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:dysmorphic facial features may not be present | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:earlier onset is rare n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:earlier onset is rare | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:early childhood onset (before age 5 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early childhood onset (before age 5 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:early death often occurs from cardiac failure or infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death often occurs from cardiac failure or infection | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:early exhaustion on exertion n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early exhaustion on exertion | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:early onset (1 month to 4 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early onset (1 month to 4 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:encephalopathic episodes associated with increased serum and csf lactate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:encephalopathic episodes associated with increased serum and csf lactate | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:endocrine and neurologic defects may become apparent later in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:endocrine and neurologic defects may become apparent later in life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:episodes last 1 to 2 days n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes last 1 to 2 days | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:episodes last 2 days to 1 week n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes last 2 days to 1 week | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:episodes triggered by fasting, illness, fever n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:episodes triggered by fasting, illness, fever | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:erythema often triggered by sudden temperature change or emotional stress n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:erythema often triggered by sudden temperature change or emotional stress | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:evidence of incomplete penetrance in one family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:evidence of incomplete penetrance in one family | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:facial dysmorphic features may not be present and may become less apparent in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:facial dysmorphic features may not be present and may become less apparent in adulthood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:familial form - constitutional deficiency of vwf-cleaving protease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:familial form - constitutional deficiency of vwf-cleaving protease | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:familial occurrence is rare n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:familial occurrence is rare | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:fatal multiorgan failure due to severe inflammatory response in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatal multiorgan failure due to severe inflammatory response in some patients | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:favorable response to ephedrine treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to ephedrine treatment | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:favorable response to spironolactone n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to spironolactone | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:favoring of fat and protein n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favoring of fat and protein | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:female carriers may have mild hearing impairment and/or mild signs of choroideremia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:female carriers may show intermittent hematuria n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may show intermittent hematuria | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:female carriers may show mild learning disabilities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may show mild learning disabilities | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:female mutation carriers are less severely affected than male mutation carriers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female mutation carriers are less severely affected than male mutation carriers | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:fever, muscle cramping, and poor feeding remit by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fever, muscle cramping, and poor feeding remit by age 2 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:figure associated with report or note:-:point in time:^patient:- n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:figure associated with report or note:-:point in time:^patient:- | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:first identified in individuals of cypriot origin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:first identified in individuals of cypriot origin | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:five unrelated patients have been reported (last curated july 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five unrelated patients have been reported (last curated july 2012) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:five unrelated patients have been reported (nov. 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:five unrelated patients have been reported (nov. 2009) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:flunarizine treatment may be beneficial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:flunarizine treatment may be beneficial | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:fluoxetine therapy may be effective n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fluoxetine therapy may be effective | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:focal or segmental onset in cranial-cervical area or upper limbs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:focal or segmental onset in cranial-cervical area or upper limbs | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:food related behavioral problems include excessive appetite and obsession with eating n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:food related behavioral problems include excessive appetite and obsession with eating | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:foot deformities are present in infancy or childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:foot deformities are present in infancy or childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:foot dragging may appear in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:foot dragging may appear in childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:forty percent of patients die in the first year n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:forty percent of patients die in the first year | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:found predominantly in the amish population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:found predominantly in the amish population | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:four individual patients and 1 saudi family have been reported (as of february 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four individual patients and 1 saudi family have been reported (as of february 2012) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:four patients from 3 families have been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients from 3 families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:four patients have been reported (as of december 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four patients have been reported (as of december 2009) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:four unrelated families have been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:four unrelated families of caucasian european descent have been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:frequency of episodes ranges from several per week to several per year n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequency of episodes ranges from several per week to several per year | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:gastric suction pump, home model, portable or stationary, electric n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gastric suction pump, home model, portable or stationary, electric | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic anticipation has been observed n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic anticipation has been observed | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see 191100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 191100) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see bfic2, 605751) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see bfic2, 605751) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see bscl1, 608594) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see bscl1, 608594) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see cnc2, 605244) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see cnc2, 605244) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see ebn2 121201, ebn3 608217) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see lgmd1a 159000 for overview) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see lgmd1a 159000 for overview) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see mcc1 deficiency 210200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see mcc1 deficiency 210200) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see psnp1 601104) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see psnp1 601104) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see rmd, 606072) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see rmd, 606072) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity (see, e.g., atfb1, 608583) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see, e.g., atfb1, 608583) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see (203300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see (203300) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see lgmd2a (253600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see lgmd2a (253600) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see ppnad1 (610489) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see ppnad1 (610489) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:genetic heterogeneity, see spg3a (182600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see spg3a (182600) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:gms is goniodysgenesis, mental deficiency, and short stature n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gms is goniodysgenesis, mental deficiency, and short stature | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:gonadal mosaicism reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gonadal mosaicism reported | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:gradual progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gradual progression | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:green jaundice occurs only in the context of liver failure or obstructive cholestasis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:group b patients die by 3 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:group b patients die by 3 months of age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:group c is relatively benign n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:group c is relatively benign | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:half of cases show retarded head circumference equal to height retardation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:half of cases show retarded head circumference equal to height retardation | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:hearing loss is usually severe by age 20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss is usually severe by age 20 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:heterozygous mutations reported, see 606609.0006 and 606609.0007 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:high frequency in finnish population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency in finnish population | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:high frequency of absence seizures (several per day) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency of absence seizures (several per day) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:high incidence of diabetes mellitus noted in opll patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high incidence of diabetes mellitus noted in opll patients | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:high incidence of e. coli sepsis in untreated neonates n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high incidence of e. coli sepsis in untreated neonates | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:highly variable phenotype and severity, even within families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype and severity, even within families | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:imprinting at 11p15.5 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:imprinting at 11p15.5 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:in some patients, qtc interval is prolonged only during exercise testing n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:in some patients, qtc interval is prolonged only during exercise testing | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:incidence 1 in 30,000 male births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1 in 30,000 male births | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 300,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 300,000 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 39,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 39,000 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:incidence of 1 in 50,000 to 1 in 100,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 50,000 to 1 in 100,000 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:incidence ranges from 1 in 8,500 to 1 in 12,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:incomplete penetrance (50%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance (50%) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:increased morbidity/mortality in affected males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased morbidity/mortality in affected males | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:increased prevalence among smokers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased prevalence among smokers | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:increased rate of miscarriage in affected individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased rate of miscarriage in affected individuals | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:increased recurrence risk with parental translocation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased recurrence risk with parental translocation | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:increased susceptibility to malignant hyperthermia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased susceptibility to malignant hyperthermia | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:increased tendency to chromosomal nondisjunction n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased tendency to chromosomal nondisjunction | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:infertility n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infertility | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:intrafamilial variability in severity of hypothyroidism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial variability in severity of hypothyroidism | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:involuntary and nonvolitional phenomenon n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:involuntary and nonvolitional phenomenon | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:isolated finding n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:isolated finding | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:joint symptoms begin in third or fourth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:joint symptoms begin in third or fourth decade | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:juvenile onset 4 years to puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:juvenile onset 4 years to puberty | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:laboratory director name:pn:pt:provider:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:laboratory director name:pn:pt:provider:nom | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:late-adult onset (fifth to sixth decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late-adult onset (fifth to sixth decade) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:late-adult onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late-adult onset has been reported | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:lesions increase in size and number with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lesions increase in size and number with age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:lesions occur mainly on the pinnae of the ears or on the face n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lesions occur mainly on the pinnae of the ears or on the face | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:lethal in the neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lethal in the neonatal period | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:lifelong occurrence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lifelong occurrence | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:lifetime risk of breast cancer in male mutation carriers in 6% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lifetime risk of breast cancer in male mutation carriers in 6% | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:live born infants die within few hours of birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:live born infants die within few hours of birth | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:longer disease duration than creutzfeldt-jakob disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:longer disease duration than creutzfeldt-jakob disease | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:lower limb involvement occurs before upper limb involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lower limb involvement occurs before upper limb involvement | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:lymphedema resolves by age 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lymphedema resolves by age 3 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:majority of cases (95%) are sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases (95%) are sporadic | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:male infertility n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male infertility | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:male predominance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:male predominance | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:males are more severely affected than females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males are more severely affected than females | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:males died in neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:males died in neonatal period | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:malnutrition can be severe, requiring total parenteral nutrition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:malnutrition can be severe, requiring total parenteral nutrition | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:manifestations continue to appear until 5th decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:manifestations continue to appear until 5th decade | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:many cases due to de novo mutation or chromosome aberration n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many cases due to de novo mutation or chromosome aberration | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:many patients are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many patients are asymptomatic | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:many patients die by 1-3 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many patients die by 1-3 years of age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:maternal anticipation bias n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:maternal anticipation bias | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:may be benign condition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be benign condition | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:may be precipitated by minor illness (e.g., viral infection, fever) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be precipitated by minor illness (e.g., viral infection, fever) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:may have less severe phenotype than rsts patients with crebbp mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may have less severe phenotype than rsts patients with crebbp mutations | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:may have seasonal variance in severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may have seasonal variance in severity | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:may or may not be responsive to pyridoxine (vitamin b6) treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:may result in sudden death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may result in sudden death | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:may show good response to levodopa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may show good response to levodopa | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 12.5 years (range 2 to 15 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 12.5 years (range 2 to 15 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 24 years (range 14 to 33 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 24 years (range 14 to 33 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 30.7 years (range 6 to 60 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 30.7 years (range 6 to 60 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 46.5 years (range 19-64) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 46.5 years (range 19-64) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mean age at onset 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 5 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mean age at onset of dementia is 57 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset of dementia is 57 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mean age of onset 16 to 19 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 16 to 19 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mean age of onset 22 years (range 5-54) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 22 years (range 5-54) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:median age at diagnosis 7 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age at diagnosis 7 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:microdeletion is approximately 1.5mb in length n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:microdeletion is approximately 1.5mb in length | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:milder expression in female heterozygotes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:milder expression in female heterozygotes | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:more common in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more common in females | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:more common in males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more common in males | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:most cases due to de novo mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases due to de novo mutation | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:most common age of clinical onset ranges from 16 to 33 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most common age of clinical onset ranges from 16 to 33 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:most patients do not learn to sit or walk n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients do not learn to sit or walk | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:most patients have contiguous gene deletion syndrome involving xp22 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients have contiguous gene deletion syndrome involving xp22 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:most patients present in infancy with anemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients present in infancy with anemia | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:mousy odor n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mousy odor | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:multiple lesions in familial cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:multiple lesions in familial cases | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:muscle weakness increases with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:muscle weakness increases with age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:myoclonus is presenting symptom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:myoclonus is presenting symptom | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:nail changes may be intermittent in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nail changes may be intermittent in some patients | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:narcolepsy and deafness are the first symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:narcolepsy and deafness are the first symptoms | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:neuroendocrine recovery occurs in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neuroendocrine recovery occurs in some patients | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:neurologic involvement may occur in the absence of visceral involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic involvement may occur in the absence of visceral involvement | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:neurologic signs last hours to days n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic signs last hours to days | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:neurologic signs may not be present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic signs may not be present | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:neurologic symptoms may develop decades later n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neurologic symptoms may develop decades later | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:no cardiac or immune defects in patients from the 2 reported families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no cardiac or immune defects in patients from the 2 reported families | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:no consistent disease phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no consistent disease phenotype | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:no family history of n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no family history of | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:no features consistent with cystic fibrosis found in these patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no features consistent with cystic fibrosis found in these patients | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:no skeletal abnormalities in odontohypophosphatasia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no skeletal abnormalities in odontohypophosphatasia | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:nonpenetrance has been observed n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonpenetrance has been observed | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:nonprogressive hepatic form is less frequent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonprogressive hepatic form is less frequent | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:nonprogressive or slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonprogressive or slowly progressive | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:nonprogressive or very slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonprogressive or very slowly progressive | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:normal development before onset of seizures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal development before onset of seizures | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:normal growth and development after 1 year of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal growth and development after 1 year of age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:not responsive to steroid treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:not responsive to steroid treatment | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:nyctalopia is a later feature of the disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nyctalopia is a later feature of the disorder | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:occurs in ~3% pregnancies in western populations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in ~3% pregnancies in western populations | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:occurs in full-term newborns n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in full-term newborns | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:occurs most often in developing countries in tropical regions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs most often in developing countries in tropical regions | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:occurs on right side in 75% of cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs on right side in 75% of cases | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:older individuals had moderate to severe hearing loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:older individuals had moderate to severe hearing loss | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one chinese family with 14 affected individuals has been described (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one consanguineous arab israeli family has been reported (last curated february, 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani family has been described (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family has been described (last curated march 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani family has been reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani family has been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one consanguineous pakistani has been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one family and an unrelated patient have been reported (last curated january 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family and an unrelated patient have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one family has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (as of july 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of july 2011) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated june 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one family has been reported (last curated may 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated may 2012) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one family of mali origin has been reported (last curated january 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family of mali origin has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one family with 2 sisters have been reported (as of march 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 2 sisters have been reported (as of march 2010) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one german family has been reported (as of september 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one german family has been reported (as of september 2009) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one indian family has been reported (as of october 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one indian family has been reported (as of october 2011) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one large 4-generation uruguayan family reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large 4-generation uruguayan family reported (last curated august 2014) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one of the most common autoimmune diseases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one of the most common autoimmune diseases | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one palestinian family and one lebanese family have been described (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one palestinian family and one lebanese family have been described (last curated march 2016) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one patient had onset at age 4 months after normal development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient had onset at age 4 months after normal development | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one patient has been described (last curated january 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been described (last curated january 2016) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (as of april 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (as of april 2011) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one patient has been reported (last curated may 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated may 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:one report of a large italian family from sardinia (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one report of a large italian family from sardinia (last curated december 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:only 13% develop hypertension at 18 years of age or less n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:only 13% develop hypertension at 18 years of age or less | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset <30 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset <30 months | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset 13-15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 13-15 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset 2-4 years of age in iia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 2-4 years of age in iia | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset 6 months to 2.5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 6 months to 2.5 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset about 6 months of age after normal growth and development in the first few months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset about 6 months of age after normal growth and development in the first few months of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset at age 3-5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at age 3-5 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset at age 36 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at age 36 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset before age 20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before age 20 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset between 10 and 20 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 10 and 20 years of age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset between 12 and 30 years (average 22) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 12 and 30 years (average 22) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset between 5 and 20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 5 and 20 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset between 6 and 15 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 6 and 15 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset between 9 and 16 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 9 and 16 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset beyond the second year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset beyond the second year of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset birth to early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset birth to early infancy | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset by age 2 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset first to seventh decade with 30 to 40 year mode n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset first to seventh decade with 30 to 40 year mode | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in childhood (3 to 10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (3 to 10 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in childhood (range 2 to 16 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (range 2 to 16 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in childhood (range birth to 10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (range birth to 10 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in childhood (usually before age 5 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood (usually before age 5 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in childhood or youth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood or youth | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in early childhood (2-4 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early childhood (2-4 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in infancy (first year of life) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy (first year of life) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in infancy or childhood (range 1 to 6 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy or childhood (range 1 to 6 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in infancy up to 3 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy up to 3 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in late childhood/adolescence (approximately 15 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late childhood/adolescence (approximately 15 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in lower limbs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in lower limbs | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in second decade, but sometimes earlier n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second decade, but sometimes earlier | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in second to fifth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second to fifth decade | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in second to fourth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second to fourth decade | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in the first hours or days of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the first hours or days of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in third decade | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset in utero, infancy, or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in utero, infancy, or early childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset late childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset may occur in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset may occur in adulthood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of acanthosis nigricans correlates with onset of diabetes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of acanthosis nigricans correlates with onset of diabetes | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of ataxia in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of ataxia in early childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of cataracts in late adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of cataracts in late adolescence | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of disease after fourth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of disease after fourth decade of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of dysmorphic features and developmental delay in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of dysmorphic features and developmental delay in infancy | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of febrile seizures typically between 6 months and 6 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of febrile seizures typically between 6 months and 6 years of age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of hearing loss in late childhood or adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss in late childhood or adolescence | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of joint contractures later in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of joint contractures later in life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of liver involvement in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of liver involvement in infancy | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of malignancy can occur throughout life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of malignancy can occur throughout life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of neuromuscular symptoms between 6 months and 1 year of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of neuromuscular symptoms between 6 months and 1 year of age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of progressive spastic paraplegia in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of progressive spastic paraplegia in childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of seizures around 7 to 12 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures around 7 to 12 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of seizures at 2-8 days of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures at 2-8 days of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of seizures in first months of life (usually 4 to 7 months) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures in first months of life (usually 4 to 7 months) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of sleep terrors between age 4 and 12 years old n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of sleep terrors between age 4 and 12 years old | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of slowly progressive spastic paraplegia in first or second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of slowly progressive spastic paraplegia in first or second decade | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of symptoms in adolescence or early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in adolescence or early adulthood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset of symptoms in early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in early childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset ranges from childhood to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset ranges from childhood to adulthood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset usually after viral-like infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually after viral-like infection | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset usually by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually by age 2 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset usually in first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in first year of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:onset usually in young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in young adulthood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:overall prevalence is between 0.5 and 14 per 100,000 people per year n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:overlap with obsessive-compulsive disorder (ocd, 164230) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:overlap with obsessive-compulsive disorder (ocd, 164230) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:pancreatic endocrine abnormalities reported in 1 family only n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pancreatic endocrine abnormalities reported in 1 family only | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients from old order amish community and turkey have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients from old order amish community and turkey have been reported | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients may die in infancy or childhood due to respiratory failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may die in infancy or childhood due to respiratory failure | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients may show both optic neuropathy and dystonia or only 1 disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may show both optic neuropathy and dystonia or only 1 disorder | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients often have a more severe and complicated phenotype in addition to peo n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients often have a more severe and complicated phenotype in addition to peo | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients show sorbitol and glycerol intolerance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients show sorbitol and glycerol intolerance | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients with meb have less severe features and longer survival n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with meb have less severe features and longer survival | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:pavm more frequent in hht1 than hht2 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pavm more frequent in hht1 than hht2 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:performing laboratory medical director:id:pt:facility:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:performing laboratory medical director:id:pt:facility:nom | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:persistent bleeding after injury or surgery n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:persistent bleeding after injury or surgery | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:phenotype is worsened by cold temperature n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype is worsened by cold temperature | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:phenotype may be influenced by maternal alcohol consumption during pregnancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:phenotypic similarities to costello syndrome (218040) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic similarities to costello syndrome (218040) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:physical features are apparent at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:physical features are apparent at birth | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:pneumocytosis carinii infection (12 to 42%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pneumocytosis carinii infection (12 to 42%) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:poor response to l-dopa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poor response to l-dopa | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:poor response to the c5 inhibitor eculizumab n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poor response to the c5 inhibitor eculizumab | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:possibly x-linked recessive inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possibly x-linked recessive inheritance | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:predominantly occurs in young males with a high rate of atopic disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:predominantly occurs in young males with a high rate of atopic disease | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:prenatal or neonatal onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prenatal or neonatal onset | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:prenatal or perinatal lethality in hemizygous males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prenatal or perinatal lethality in hemizygous males | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:presentation after 18 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation after 18 months | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:presumed autosomal dominant with incomplete penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presumed autosomal dominant with incomplete penetrance | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:prevalence 1/10,000-1/15,000 female births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence 1/10,000-1/15,000 female births | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:prevalence of 0.6 to 10 per 100,000 individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 0.6 to 10 per 100,000 individuals | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:prevalence of 1 in 1,500 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 1,500 | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:prevalence of approximately 1 in 2000 individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of approximately 1 in 2000 individuals | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:prevalence of sleepwalking up to 26% in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of sleepwalking up to 26% in childhood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:prevalent in north africa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent in north africa | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:prevalent in quebec n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalent in quebec | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:profound dementia and death usually occurs by age 50 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:profound dementia and death usually occurs by age 50 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:progression more frequent in men than women n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progression more frequent in men than women | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:progressive or slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive or slowly progressive | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:progressive sclerosis with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progressive sclerosis with age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:reason for lab test:type:pt:bld.dot:nom n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reason for lab test:type:pt:bld.dot:nom | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:reduced penetrance (75%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced penetrance (75%) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:reduced penetrance (about 60%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced penetrance (about 60%) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:relapsing-remitting course n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relapsing-remitting course | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:relationship of rare neuropsychiatric signs to histidinemia is unclear n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:repeat is unstable if > 52 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:repeat is unstable if > 52 repeats | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:residual neurologic deficits are slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:residual neurologic deficits are slowly progressive | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:reticulate hyperpigmentation onset birth - 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reticulate hyperpigmentation onset birth - 2 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:retinal arteriolar tortuosity develops in adolescence and is progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:retinal arteriolar tortuosity develops in adolescence and is progressive | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:retinal degeneration not always present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:retinal degeneration not always present | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:retinal hemorrhages usually resolve without sequelae n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:retinal hemorrhages usually resolve without sequelae | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:seasonal variation in severity of skin symptoms reported by some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seasonal variation in severity of skin symptoms reported by some patients | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see 607731 for an autosomal recessive form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see 607731 for an autosomal recessive form | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also autosomal dominant peoa1 (157640) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal dominant peoa1 (157640) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also autosomal recessive form (255700), which is more common and more severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal recessive form (255700), which is more common and more severe | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also dent disease 2 (300555) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also dent disease 2 (300555) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also distal hmn2a (158590) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also distal hmn2a (158590) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also dominant deb (131750), an allelic disorder with a similar phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also facial hemihypertrophy (133900) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also facial hemihypertrophy (133900) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also febrile seizures (feb1, 121210) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also febrile seizures (feb1, 121210) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also junctional eb with pyloric atresia (226730) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also junctional eb with pyloric atresia (226730) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also optic atrophy 1 (165500), an allelic disorder without deafness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also perinatal lethal variant (608013), which is more severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also perinatal lethal variant (608013), which is more severe | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see entry 104300 for general information on alzheimer disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see entry 104300 for general information on alzheimer disease | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:sensorineural hearing loss may be presenting feature n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sensorineural hearing loss may be presenting feature | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:seventy percent of cases are stillborn n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seventy percent of cases are stillborn | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:seventy percent of cases have associated anomalies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seventy percent of cases have associated anomalies | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:six patients from 4 families have been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:six patients from 4 families have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:skewed x-inactivation in carriers n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skewed x-inactivation in carriers | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:skin abnormalities tend to decrease with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin abnormalities tend to decrease with age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:skin lesion appear shortly after birth and tend to disappear in young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:skin manifestations may not be present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin manifestations may not be present | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:skin peeling exacerbated by heat, friction, and humidity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin peeling exacerbated by heat, friction, and humidity | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:slc25a4 mutations account for approximately 4% of all peo cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slc25a4 mutations account for approximately 4% of all peo cases | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some features are variably expressed n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some features are variably expressed | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some heterozygous carriers exhibit accelerated age-related hearing loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some heterozygous carriers exhibit accelerated age-related hearing loss | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients become wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients become wheelchair-bound | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients become wheelchair-bound in second decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients become wheelchair-bound in second decade | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients develop diabetes mellitus as adolescents n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients develop diabetes mellitus as adolescents | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients exhibit features of more than 1 type of cardiomyopathy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients exhibit features of more than 1 type of cardiomyopathy | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients have an attenuated phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have an attenuated phenotype | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients have only plantar surface involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have only plantar surface involvement | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients have onset in second decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have onset in second decade of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients have persistence of seizures to adulthood, but then show remission n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have persistence of seizures to adulthood, but then show remission | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients may become bedridden 10 to 20 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may become bedridden 10 to 20 years after onset | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients may become wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may become wheelchair-bound | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients may not have recurrent infections n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may not have recurrent infections | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients never gain ambulation or become wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients never gain ambulation or become wheelchair-bound | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients report cyclical changes in severity of symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients report cyclical changes in severity of symptoms | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients show rapid disease progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show rapid disease progression | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:spontaneous resolution of seizures by 12 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneous resolution of seizures by 12 months of age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:spontaneous reversal of gnrh deficiency may occur in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneous reversal of gnrh deficiency may occur in some patients | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:striking intrafamilial variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:striking intrafamilial variability | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:sudden cardiac death frequent in affected families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden cardiac death frequent in affected families | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:sudden infantile death may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sudden infantile death may occur | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:survivors develop dysautonomia-like symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survivors develop dysautonomia-like symptoms | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:susceptibility to infections starts in the first week of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:susceptibility to infections starts in the first week of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:symptoms may decrease after age 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms may decrease after age 30 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:systemic granulomatous disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:systemic granulomatous disease | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:this specific disorder has been described in 1 family (ke) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:this specific disorder has been described in 1 family (ke) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:thorax anomaly ameliorates with age (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:thorax anomaly ameliorates with age (in some patients) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:three main phenotypes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three main phenotypes | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:three unrelated caucasian patients have been reported (as of january 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated caucasian patients have been reported (as of january 2012) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:three unrelated families have been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:three unrelated families have been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated october 2014) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:three unrelated families have been reported (last curated october 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:three unrelated males have been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated males have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:three unrelated patients have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:time of analysis:tmstp:pt:xxx:qn n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:time of analysis:tmstp:pt:xxx:qn | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:tooth agenesis ranges from 1 missing tooth to marked oligodontia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:treatment with dichloroacetate (dca) prolongs survival n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with dichloroacetate (dca) prolongs survival | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:treatment with riboflavin has been helpful in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with riboflavin has been helpful in some patients | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:tremor is aggravated by low glucose or light n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tremor is aggravated by low glucose or light | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:twelve or more lesions per eye in individuals over 60 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:twelve or more lesions per eye in individuals over 60 years of age | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two affected sibs have been reported (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two affected sibs have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two clinical forms - type i (deficiency of b5r is isolated to erythrocytes) and type ii (deficiency of b5r in all cell types) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two clinical forms - type i (deficiency of b5r is isolated to erythrocytes) and type ii (deficiency of b5r in all cell types) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two families of canadian origin have been reported (last curated may 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families of canadian origin have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two jordanian sibs have been reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two jordanian sibs have been reported (last curated november 2014) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two of 6 patients became wheelchair-bound by age 20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two of 6 patients became wheelchair-bound by age 20 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two related patients have been reported (as of november 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two related patients have been reported (as of november 2010) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two types - severe infantile form (type i) and milder form (type ii) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two types - severe infantile form (type i) and milder form (type ii) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two unrelated chinese families have been reported (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated chinese families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two unrelated consanguineous families have been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated consanguineous families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two unrelated families have been reported (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated november 2013) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two unrelated japanese patients have been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated japanese patients have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two unrelated japanese patients have been reported (last curated may 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated japanese patients have been reported (last curated may 2012) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated january 2015) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:type 2n is characterized by decreased binding affinity for factor viii n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 2n is characterized by decreased binding affinity for factor viii | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:type 3 - brandywine isolate opalescent dentin (125500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 3 - brandywine isolate opalescent dentin (125500) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:type i onset at 8 to 15 months of age after normal development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type i onset at 8 to 15 months of age after normal development | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:types of psoriasis include - plaque, guttate, erythrodermic, pustular n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:unusual cabbage-like odor n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:unusual cabbage-like odor | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:usually sporadic, few cases described with autosomal dominant inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually sporadic, few cases described with autosomal dominant inheritance | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable age at onset (infant to adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (infant to adult) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range childhood to adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range childhood to adult) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable age at onset (range childhood to late adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range childhood to late adult) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable age at onset of symptoms (from childhood to the sixth decade of life) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset of symptoms (from childhood to the sixth decade of life) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable age of onset (range 4 to 47 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (range 4 to 47 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable duration (minutes to hours) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable duration (minutes to hours) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable facial dysmorphic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable facial dysmorphic features | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable neuroradiologic findings n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable neuroradiologic findings | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable onset of seizures from neonatal to first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable onset of seizures from neonatal to first year of life | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable phenotype ranging from woolly to sparse hair, even within a single family n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype ranging from woolly to sparse hair, even within a single family | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable phenotype within families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype within families | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable phenotype within families ranging from woolly hair to hypotrichosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype within families ranging from woolly hair to hypotrichosis | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable phenotypic expression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotypic expression | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable severity that correlates with rate and magnitude of neuronal protein accumulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:variable severity, ranging from 'typical' to 'severe' disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity, ranging from 'typical' to 'severe' disease | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:venous malformations previously referred to as angiomas or hemangiomas n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:venous malformations previously referred to as angiomas or hemangiomas | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:very slow progression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:very slow progression | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:very variable phenotype, with some patients having many features and others only a few n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:very variable phenotype, with some patients having many features and others only a few | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:vhl type 2c - pheochromocytoma only n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:vhl type 2c - pheochromocytoma only | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:walking delay n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:walking delay | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:wheelchair use at 20-30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wheelchair use at 20-30 years | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:wide phenotypic variability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wide phenotypic variability | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:women are more often affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:women are more often affected | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:worsening of symptoms during sleep n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:worsening of symptoms during sleep | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:young adult onset (range 13 to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:young adult onset (range 13 to 50 years) | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 27 / 0.628 -> en:zinc deficiency in breastfed offspring resolves after weaning n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:zinc deficiency in breastfed offspring resolves after weaning | rel=r_associated | relid=0 | w=27 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:(3) intermediate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:(3) intermediate | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:(4) thiamine-responsive form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:(4) thiamine-responsive form | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:40% patients have associated abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:40% patients have associated abnormalities | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:5-10% of all wilms tumor are bilateral n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:5-10% of all wilms tumor are bilateral | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:95% of cases are sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:95% of cases are sporadic | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:a second family had mild intellectual disability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:a second family had mild intellectual disability | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:abnormal transferrin pattern tends to improve with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:abnormal transferrin pattern tends to improve with age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:adams-stokes syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adams-stokes syndrome | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:adrenal insufficiency usually develops later (first decade) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adrenal insufficiency usually develops later (first decade) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:adult onset (25-45 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (25-45 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:adult onset (40 to 60 years old) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (40 to 60 years old) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:adult onset (after age 35 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (after age 35 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:adult onset (mean age 37 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset (mean age 37 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:adult onset from second to seventh decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:adult onset from second to seventh decade | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:affected females may have increased spontaneous abortions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected females may have increased spontaneous abortions | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:affected individuals have a relatively mild ichthyosis phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals have a relatively mild ichthyosis phenotype | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:affected individuals remain ambulatory in old age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected individuals remain ambulatory in old age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:affected males have serotonin-related disorders such as migraine headaches and diabetes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:affects up to 10% of women in their reproductive years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:affects up to 10% of women in their reproductive years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:age at first pregnancy:time:point in time:^patient:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at first pregnancy:time:point in time:^patient:quantitative | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:age at onset 3 to 23 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset 3 to 23 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:age at onset ranges from 16 years to 65 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age at onset ranges from 16 years to 65 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:age of onset 1 to 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset 1 to 2 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:age of onset ranges from neonate to adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset ranges from neonate to adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:age of onset varies between 18 years and 53 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age of onset varies between 18 years and 53 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:age on onset - adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:age on onset - adolescence | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:all affected individuals have been stillborn or died in the neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all affected individuals have been stillborn or died in the neonatal period | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:all cases presumed de novo mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all cases presumed de novo mutation | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:all reported cases result from de novo mutation (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:all reported cases result from de novo mutation (last curated july 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to brachydactyly type b (113000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to brachydactyly type b (113000) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to charcot-marie-tooth disease type 1a (118220) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to glut1 deficiency syndrome 1 (606777) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to infantile neuroaxonal dystrophy (256600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic to cartilage-hair hypoplasia (250250) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to cartilage-hair hypoplasia (250250) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic to enhanced s-cone syndrome (268100) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to enhanced s-cone syndrome (268100) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic to marshall syndrome (154780) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to marshall syndrome (154780) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic to nephronophthisis 4 (606966) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to nephronophthisis 4 (606966) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic to several forms of autosomal recessive cmt (see 214400) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to several forms of autosomal recessive cmt (see 214400) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:also called 'heterozygous osmed' and 'autosomal dominant osmed' n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:ambulation is usually maintained during adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ambulation is usually maintained during adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:anemia may be responsive to iron chelation treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anemia may be responsive to iron chelation treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:apparent in newborn at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:apparent in newborn at birth | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:approximately 80% of cs patients have pten mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately 80% of cs patients have pten mutations | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:approximately one-third of patients become seizure-free with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately one-third of patients become seizure-free with age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:associated with a balanced translocation t(12,22)(p11.2,q13.3) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:associated with increased frequency of autoimmune diseases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:associated with increased frequency of autoimmune diseases | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:asymptomatic heterozygotes susceptible to lead toxicity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:asymptomatic heterozygotes susceptible to lead toxicity | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:autosomal dominant omodysplasia has also been described (164745) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal dominant omodysplasia has also been described (164745) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive and dominant pedigrees described n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive and dominant pedigrees described | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive cytochrome b-positive cgd, type i (233700) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive disorder tends to be more severe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive disorder tends to be more severe | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:autosomal recessive inheritance (245600) has also been suggested n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:autosomal recessive inheritance (245600) has also been suggested | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:average duration of illness 8 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average duration of illness 8 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:average onset of seizures 6 months (range 3-12) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:average onset of seizures 6 months (range 3-12) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:based on 1 large swiss german kindred (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 large swiss german kindred (last curated august 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:based on 1 report of monozygotic twins (last curated may 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on 1 report of monozygotic twins (last curated may 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:based on one consanguineous palestinian family (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on one consanguineous palestinian family (last curated august 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:based on report of 1 3-generation family (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 3-generation family (last curated november 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:based on report of 1 family of german ancestry (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 family of german ancestry (last curated december 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:based on report of 1 family with 7 affected members n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:based on report of 1 family with 7 affected members | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:because fetal chrng (100730) exhibits phenotypic rescue n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:because fetal chrng (100730) exhibits phenotypic rescue | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:benign trait n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:benign trait | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:benign, asymptomatic defect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:benign, asymptomatic defect | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:bone anomalies may be seen on prenatal ultrasound (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:bone anomalies may be seen on prenatal ultrasound (in some patients) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:can be effectively treated with n-carbamylglutamate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:can be effectively treated with n-carbamylglutamate | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:cancer onset usually in mid-adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cancer onset usually in mid-adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:carrier females are normal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females are normal | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:carrier females may have mild features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:carrier females may have mild features | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:characteristic face and body by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:characteristic face and body by age 2 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:childhood onset (range birth to 12 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood onset (range birth to 12 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:childhood or young adult onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:childhood or young adult onset | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:chronic disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:chronic disease | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:clinical features present only if mutation inherited on paternal allele n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical features present only if mutation inherited on paternal allele | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:clinical variability seen in waardenburg syndrome type 1 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clinical variability seen in waardenburg syndrome type 1 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:clonazepam and diazepam may be effective in preventing or lessening severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clonazepam and diazepam may be effective in preventing or lessening severity | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:colorectal cancer develops by fourth decade in untreated patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:colorectal cancer develops by fourth decade in untreated patients | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:communication board, non-electronic augmentative or alternative communication device n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:communication board, non-electronic augmentative or alternative communication device | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:complementation group b (represented by single atypical patient) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complementation group b (represented by single atypical patient) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:complementation group c (variant mliii, 252605) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:complementation group c (variant mliii, 252605) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:contiguous gene deletion syndrome at chromosome 6p n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contiguous gene deletion syndrome at chromosome 6p | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:contractures at birth or difficulties in the neonatal period resolve n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:contractures at birth or difficulties in the neonatal period resolve | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:corneal diameter decreases with decreasing axial length n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:corneal diameter decreases with decreasing axial length | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:corneal steepening is proportional to the degree of axial foreshortening n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:corneal steepening is proportional to the degree of axial foreshortening | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:cyp2d6 represents about 1% of total liver cytochrome p450 content n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:de novo deletions in 8% of patients (preferentially paternally derived) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:de novo deletions in 8% of patients (preferentially paternally derived) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:de novo mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:de novo mutation | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:de novo mutation in most patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:de novo mutation in most patients | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death at 20 to 40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death at 20 to 40 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death by age 15 months n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death by age 15 months | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death frequent in severe infantile form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death frequent in severe infantile form | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death in childhood is frequent due to respiratory failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in childhood is frequent due to respiratory failure | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death in childhood secondary to malabsorption n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in childhood secondary to malabsorption | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death in majority of infants soon after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in majority of infants soon after birth | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death in perinatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death in perinatal period | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death occurs 10 to 20 years after onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death occurs 10 to 20 years after onset | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death often in first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often in first months of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death often occurs in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death often occurs in childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death secondary to respiratory infection or failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death secondary to respiratory infection or failure | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death usually by age 10 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually by age 10 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death usually due to respiratory failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually due to respiratory failure | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death usually in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death usually in the first 2 years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in the first 2 years of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death usually in the perinatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually in the perinatal period | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death usually occurs by age 2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually occurs by age 2 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:death usually occurs in early infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:death usually occurs in early infancy | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:decreased penetrance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:decreased penetrance | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:deposits may recur in graft after corneal transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:deposits may recur in graft after corneal transplantation | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:does not lead to hepatic failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:does not lead to hepatic failure | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:early childhood lethality may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early childhood lethality may occur | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:early death due to infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death due to infection | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:early death from respiratory failure may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death from respiratory failure may occur | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:early death in males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early death in males | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:early onset of symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early onset of symptoms | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:early-onset associated with more severe course and early death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:early-onset associated with more severe course and early death | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:evidence of prenatal fractures n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:evidence of prenatal fractures | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:exacerbation during febrile episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:exacerbation during febrile episodes | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:exacerbation or regression during viral infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:exacerbation or regression during viral infection | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:excessive postsurgical blood loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:excessive postsurgical blood loss | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:extrapyramidal signs show a favorable response to levodopa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:extrapyramidal signs show a favorable response to levodopa | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:facial dysmorphic features are mild n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:facial dysmorphic features are mild | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:family history of sudden death, as early as fourth decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:family history of sudden death, as early as fourth decade of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:fatal if renal transplant is not performed n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatal if renal transplant is not performed | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:fatal in first few months of life in most cases n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fatal in first few months of life in most cases | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:favorable response to 3,4-diaminopyridine n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to 3,4-diaminopyridine | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:favorable response to rituxan (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:favorable response to rituxan (in some patients) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:female carriers experience significant clinical manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers experience significant clinical manifestations | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:female carriers may be mildly affected n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may be mildly affected | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:female carriers may have asymptomatic proteinuria or hypercalciuria n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female carriers may have asymptomatic proteinuria or hypercalciuria | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:female preponderance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:female preponderance | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:females have milder manifestations than males n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:females have milder manifestations than males | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:first described in acadian population of louisiana n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:first described in acadian population of louisiana | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:fishy body odor n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fishy body odor | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:flares triggered by viral infection, overexertion, stress n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:flares triggered by viral infection, overexertion, stress | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:following fever in infancy, muscular weakness and poor growth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:following fever in infancy, muscular weakness and poor growth | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:four clinically indistinguishable biochemically distinct forms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four clinically indistinguishable biochemically distinct forms | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:fracture frequency increases after menopause and in men ages 60-80 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fracture frequency increases after menopause and in men ages 60-80 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:fractures decrease after puberty but increase after menopause n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:fractures decrease after puberty but increase after menopause | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:frequent falls n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:frequent falls | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:full recovery after attacks n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:full recovery after attacks | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (ccm2 603284, ccm3 603285) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see 304800) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see 304800) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see coxpd1, 609060) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see coxpd1, 609060) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see npc1, 257220) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see npc1, 257220) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity, see fhm1 141500 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see fhm1 141500 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:glucocorticoid deficiency occurs in mid-childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:glucocorticoid deficiency occurs in mid-childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:good response to immunotherapy (intravenous igg or plasmapheresis) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to immunotherapy (intravenous igg or plasmapheresis) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:good response to l-dopa initially n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to l-dopa initially | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:good response to levodopa treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to levodopa treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:good response to medication n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to medication | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:good response to phosphate treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:good response to phosphate treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:gradual progression of hearing loss n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gradual progression of hearing loss | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:hair regrowth may occur later in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hair regrowth may occur later in life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:hearing loss occurs in late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss occurs in late childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:hearing loss progresses to profound deafness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hearing loss progresses to profound deafness | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:hematuria may become apparent after respiratory infections (synpharyngitic) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hematuria may become apparent after respiratory infections (synpharyngitic) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:hepatic failure develops in first months of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hepatic failure develops in first months of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:heterozygotes exhibit blue sclerae and soft velvety skin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes exhibit blue sclerae and soft velvety skin | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:high frequency of levodopa-induced dyskinesias n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high frequency of levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:high occurrence of de novo mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high occurrence of de novo mutations | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:high prevalence in charlevoix-saguenay region of northeastern quebec n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high prevalence in charlevoix-saguenay region of northeastern quebec | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:high prevalence in holguin province of cuba n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:high prevalence in holguin province of cuba | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:highly variable degree of bone fragility, even among patients carrying the same mutation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable degree of bone fragility, even among patients carrying the same mutation | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:highly variable intrafamilial severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable intrafamilial severity | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:highly variable phenotype and age of onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype and age of onset | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:highly variable phenotype in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable phenotype in females | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:highly variable severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable severity | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:highly variable severity and features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:highly variable severity and features | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:hip replacement in early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hip replacement in early adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence - 1/16,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence - 1/16,000 live births | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence 1 in 50,000-100,000 in western europe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1 in 50,000-100,000 in western europe | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence 1-1.5/1,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence 1-1.5/1,000 live births | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence in finland is 1 in 76,000 births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence in finland is 1 in 76,000 births | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of 0.51 per million in france n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 0.51 per million in france | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 1.5 million births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 1.5 million births | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 100,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 100,000 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 100,000 to 125,000 at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 100,000 to 125,000 at birth | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 20,000 live births n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 20,000 live births | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 3,900 births among jewish persons n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 3,900 births among jewish persons | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of 1 per 10,000 births in japan n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of 1 per 10,000 births in japan | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incomplete penetrance in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance in females | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:incomplete penetrance of optic atrophy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:incomplete penetrance of optic atrophy | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:increased prevalence among women n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased prevalence among women | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:increased prevalence in the french-canadian population n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased prevalence in the french-canadian population | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:increased risk of post-splenectomy thrombotic complications (in some patients) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increased risk of post-splenectomy thrombotic complications (in some patients) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:increasing hypertension with increasing age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:increasing hypertension with increasing age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:infantile onset with hepatic involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infantile onset with hepatic involvement | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:infantile, late-infantile, juvenile, and adult onset have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infantile, late-infantile, juvenile, and adult onset have been reported | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:infants are stillborn or die shortly after birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:infants are stillborn or die shortly after birth | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:initial development may appear normal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:initial development may appear normal | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:initially normal for first 6-18 months which is then followed by withdrawal and regression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:interfamilial and intrafamilial clinical heterogeneity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:interfamilial and intrafamilial clinical heterogeneity | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:intolerant of heat n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intolerant of heat | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:intrafamilial variation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:intrafamilial variation | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:joint dislocations become less frequent with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:joint dislocations become less frequent with age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:late adult onset (after age 55 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late adult onset (after age 55 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:late-adult onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late-adult onset | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:late-adult onset (age 50 or later) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:late-adult onset (age 50 or later) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:later onset in adolescence has rarely been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset in adolescence has rarely been reported | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:later onset may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:later onset may occur | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:lesions appear in infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lesions appear in infancy or early childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:lesions provoked by friction, sun exposure, heat, and injury n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lesions provoked by friction, sun exposure, heat, and injury | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:less severe phenotype in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:less severe phenotype in females | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:liver disease may be the most predominant finding n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:liver disease may be the most predominant finding | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:lower limb weakness is presenting feature n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:lower limb weakness is presenting feature | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:majority are stillborn or die in early neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority are stillborn or die in early neonatal period | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:majority of cases in the afrikaner population of south africa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of cases in the afrikaner population of south africa | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:majority of patients are ambulatory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of patients are ambulatory | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:majority of wws patients die within the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:majority of wws patients die within the first year of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:many cases are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many cases are asymptomatic | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:many patients lose independent mobility after 25 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:many patients lose independent mobility after 25 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:marked phenotypic variability, even within an individual n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked phenotypic variability, even within an individual | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:marked variability in the deletion size n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked variability in the deletion size | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:may result in death in neonatal period or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:may result in death in neonatal period or early childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mean age at onset 16.5 years (range 9 to 35 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 16.5 years (range 9 to 35 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mean age at onset 28 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 28 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mean age at onset 33 years (range 20-60) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 33 years (range 20-60) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mean age at onset 41 years (range 18 to 61) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age at onset 41 years (range 18 to 61) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mean age of diagnosis 40 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of diagnosis 40 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mean age of diagnosis of uterine leiomyomas is 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of diagnosis of uterine leiomyomas is 30 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mean age of onset 50.2 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset 50.2 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mean age of onset in third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mean age of onset in third decade | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980)) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980)) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:median age of onset of pancytopenia - 10 years (range 1-32 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mild symptoms may occur in teenage years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mild symptoms may occur in teenage years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mildly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mildly progressive | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:minimal response to surfactant treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:minimal response to surfactant treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mliii is a heterogeneous disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mliii is a heterogeneous disorder | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:more frequent in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more frequent in females | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:more severe in males than in females n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:more severe in males than in females | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most affected patients die in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most affected patients die in childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most become wheelchair-bound late in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most become wheelchair-bound late in life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most cases are caused by mutation in the phox2b gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most cases are caused by mutation in the phox2b gene | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most individuals are wheelchair-bound or bedridden by adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most individuals are wheelchair-bound or bedridden by adolescence | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most patients are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients are asymptomatic | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most patients are asymptomatic and are detected by newborn screening n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients are asymptomatic and are detected by newborn screening | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most patients die in the neonatal period due to respiratory insufficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die in the neonatal period due to respiratory insufficiency | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most patients die of renal failure in early adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die of renal failure in early adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most patients die within the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients die within the first year of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:most patients remain ambulatory n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:most patients remain ambulatory | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:motor symptoms show mild clinical improvement with levodopa treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:motor symptoms show mild clinical improvement with levodopa treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mucopolysaccharidosis type iiid n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mucopolysaccharidosis type iiid | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:nails, palms, and soles are spared in some patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nails, palms, and soles are spared in some patients | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:natural aversion to carbohydrates n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:natural aversion to carbohydrates | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:near-normoglycemic remission for period of months to years without insulin treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:near-normoglycemic remission for period of months to years without insulin treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:neonatal severe hyperparathyroidism in homozygotes (239200) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:neonatal severe hyperparathyroidism in homozygotes (239200) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:no chronic or permanent liver damage n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no chronic or permanent liver damage | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:no clinical manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no clinical manifestations | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:no congenital form n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no congenital form | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:no phenotype in heterozygotes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:no phenotype in heterozygotes | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:nonspecific subtle dysmorphic facial features may be present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:nonspecific subtle dysmorphic facial features may be present | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:normal alleles contain up to 30 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal alleles contain up to 30 repeats | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:normal female secondary sexual characteristics n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:normal female secondary sexual characteristics | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one 5-generation chinese family reported (last curated november 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one 5-generation chinese family reported (last curated november 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one consanguineous arab family has been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous arab family has been reported (last curated july 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one consanguineous pakistani reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous pakistani reported (last curated july 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one consanguineous saudi family has been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous saudi family has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one consanguineous turkish family has been reported (last curated march 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one consanguineous turkish family has been reported (last curated march 2016) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family and 1 unrelated patient have been reported (last curated january 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family and 1 unrelated patient have been reported (last curated january 2011) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family had normal cognitive and neurologic development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family had normal cognitive and neurologic development | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (as of january 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of january 2011) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (as of october 2010) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (as of october 2010) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family has been reported (last curated january 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family has been reported (last curated january 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family of algerian descent has been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family of algerian descent has been reported (last curated february 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family of puerto rican descent has been reported (last curated january 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family of puerto rican descent has been reported (last curated january 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family of sicilian origin has been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family of sicilian origin has been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family reported (last curated june 2009) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family reported (last curated june 2009) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family with 2 affected brothers has been reported (last curated november 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 2 affected brothers has been reported (last curated november 2012) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family with 2 affected fetuses has been reported (as of august 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with 2 affected fetuses has been reported (as of august 2011) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one family with confirmed genetic basis has been reported (last curated september 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one family with confirmed genetic basis has been reported (last curated september 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one large family has been reported (as of 2008) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large family has been reported (as of 2008) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one large family has been reported (last curated june 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large family has been reported (last curated june 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one large swedish family has been reported (as of april 2012) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one large swedish family has been reported (as of april 2012) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one patient had onset at birth and a more severe disorder resulting in death at a young age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient had onset at birth and a more severe disorder resulting in death at a young age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (as of curation date may, 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (as of curation date may, 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (as of december 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (as of december 2011) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (as of sept 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (as of sept 2011) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one patient has been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient has been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one patient with limited clinical information has been reported (last curated october 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with limited clinical information has been reported (last curated october 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:one patient with severe congenital onset has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:one patient with severe congenital onset has been reported | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset 8-20 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset 8-20 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset at 4 to 7 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at 4 to 7 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset at 4 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset at 4 years of age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset before 50 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset before 50 years of age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset between 18 and 65 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 18 and 65 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset between 2 and 4 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 2 and 4 years of age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset between 8 and 30 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between 8 and 30 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset between the second and sixth decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset between the second and sixth decades | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset early in first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset early in first decade | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in 1st to 3rd decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in 1st to 3rd decade of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in adolescence n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in adolescence | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in childhood of blistering and pigmentary changes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in childhood of blistering and pigmentary changes | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in early adulthood (average 26 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early adulthood (average 26 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in early childhood (infancy to 5 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in early childhood (infancy to 5 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in females ranges from third to seventh decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in females ranges from third to seventh decade | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in first decade (average 5 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade (average 5 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in first decade after normal early development n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first decade after normal early development | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in first month of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in first month of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in fourth and fifth decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in fourth and fifth decades | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in infancy (first hours to weeks of life) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy (first hours to weeks of life) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in infancy of acute hypoglycemic episodes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in infancy of acute hypoglycemic episodes | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in late childhood (after age 10 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in late childhood (after age 10 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in males in first to third decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in males in first to third decade | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in second or third decades n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in second or third decades | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in the first months of life (3 to 7 months) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in the first months of life (3 to 7 months) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset in third to fourth decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset in third to fourth decade | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of achalasia in infancy or early childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of achalasia in infancy or early childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of acne in adolescence, persists into adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of acne in adolescence, persists into adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of calf hypotrophy may occur earlier n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of calf hypotrophy may occur earlier | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of dystonia at 12 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of dystonia at 12 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of hearing loss in first decade of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss in first decade of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of hearing loss in late childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of hearing loss in late childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of lymphedema before puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of lymphedema before puberty | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of myoclonus later in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of myoclonus later in childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of night blindness varies among patients from early childhood to mid thirties n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of night blindness varies among patients from early childhood to mid thirties | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of optic atrophy in first decade n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of optic atrophy in first decade | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of seizures between 9 and 12 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures between 9 and 12 months of age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of seizures in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of seizures in infancy | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of skin lesions at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of skin lesions at birth | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of skin manifestations from birth to puberty n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of skin manifestations from birth to puberty | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of spastic paraplegia in first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of spastic paraplegia in first year of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms age 5-30 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms age 5-30 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms in second to third decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms in second to third decades of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset of symptoms less than one year n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset of symptoms less than one year | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset ranges from childhood to young adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset ranges from childhood to young adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset soon after birth or within the first year of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset soon after birth or within the first year of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset usually at birth n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually at birth | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset usually between 30 and 50 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually between 30 and 50 years of age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset usually in childhood (1 to 9 years of age) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in childhood (1 to 9 years of age) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset usually in childhood (range 6 months to 16 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset usually in childhood (range 6 months to 16 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:onset within first 2 years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:onset within first 2 years of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:ossification evident 2-8 months following swelling n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:ossification evident 2-8 months following swelling | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:partial or absent response to steroid treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:partial or absent response to steroid treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:partially responsive to laser treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:partially responsive to laser treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:paternal age effect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:paternal age effect | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patient with truncating mutations are more likely to develop neurologic abnormalities n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patient with truncating mutations are more likely to develop neurologic abnormalities | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients are often misdiagnosed with spherocytosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients are often misdiagnosed with spherocytosis | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients develop aortic dissection with little or no aortic enlargement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients develop aortic dissection with little or no aortic enlargement | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients may have benign course until late adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may have benign course until late adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients may have either dementia or motor neuron disease or both n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may have either dementia or motor neuron disease or both | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients may have recurrent infections due to immunosuppressive therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may have recurrent infections due to immunosuppressive therapy | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients may present with autoimmune features or primary immunodeficiency n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients may present with autoimmune features or primary immunodeficiency | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients need lifelong total parenteral nutrition n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients need lifelong total parenteral nutrition | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients need support with walking or are wheelchair-bound n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients need support with walking or are wheelchair-bound | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients often require cardiac transplantation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients often require cardiac transplantation | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients with contiguous gene deletion of 8q24 have more severe features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with contiguous gene deletion of 8q24 have more severe features | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:patients with longer disease duration show motor neuron involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:patients with longer disease duration show motor neuron involvement | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:peak age of onset in second decade (range childhood to 50 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:peak age of onset in second decade (range childhood to 50 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:penetrance 86% by 50 years of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:penetrance 86% by 50 years of age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:peripheral neuropathy occurs in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:peripheral neuropathy occurs in adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:phenotypic variability, intrafamilial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypic variability, intrafamilial | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:phenotypically mild form of joubert syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:phenotypically mild form of joubert syndrome | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:poor response to levodopa treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:poor response to levodopa treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:positive family history in 12-33% patients n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:positive family history in 12-33% patients | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:possible defect of a specific lipase in the pathway of free fatty acid oxidation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:present in infancy in all affected individuals n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:present in infancy in all affected individuals | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:presentation at 3-6 weeks of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:presentation at 3-6 weeks of age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:prevalence 1 in 8000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence 1 in 8000 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:prevalence in caucasians is 1 in 1,000,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence in caucasians is 1 in 1,000,000 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 10,000 caucasians n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 10,000 caucasians | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 100,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 100,000 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 150,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 150,000 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 2,833 in zimbabwe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 2,833 in zimbabwe | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:prevalence of 1 in 6,000 to 1 in 10,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of 1 in 6,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:prevalence of in 1 in 8,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:prevalence of in 1 in 8,000 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:progresses through puberty, then stabilizes n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progresses through puberty, then stabilizes | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:progression in adulthood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:progression in adulthood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:protein c deficiency is found in 3-4% of patients with venous thromboembolism n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:rapidly progressive neonatal onset with early death n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rapidly progressive neonatal onset with early death | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:rare spontaneous improvement occurs (8%) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:rare spontaneous improvement occurs (8%) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:recessive inheritance has been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:recessive inheritance has been reported | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:renal anomalies are not always present n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:renal anomalies are not always present | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:reported patients are asymptomatic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:reported patients are asymptomatic | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:responsive to high-dose biotin or biotin/thiamine treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:responsive to high-dose biotin or biotin/thiamine treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:risk of sudden death with exertion n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:risk of sudden death with exertion | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:see 177850 for description of heterozygous phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see 177850 for description of heterozygous phenotype | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:see also an adult-onset form (213600) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also an adult-onset form (213600) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:see also autosomal recessive form (612304) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal recessive form (612304) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:see also autosomal recessive peob (258450) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also autosomal recessive peob (258450) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:see also pgl1 (168000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also pgl1 (168000) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:see also the autosomal recessive form (243000) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:see also the autosomal recessive form (243000) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:seizure onset in first months or years of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizure onset in first months or years of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:seizures may occur with illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures may occur with illness | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:seizures remit by age 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:seizures remit by age 5 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:severe phenotype onset - neonate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:severe phenotype onset - neonate | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:sex ratio - 2.3 males-to-1 female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sex ratio - 2.3 males-to-1 female | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:sex ratio of 4-4.5 males to 1 female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:sex ratio of 4-4.5 males to 1 female | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:similar clinical phenotype to edsiii (130020) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:similar clinical phenotype to edsiii (130020) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:skin changes are progressive in childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin changes are progressive in childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:skin neoplasia may appear later in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin neoplasia may appear later in life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:skin wrinkling improves with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:skin wrinkling improves with age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:slight male predominance (3:2) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slight male predominance (3:2) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:slow progression without marked disability n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:slow progression without marked disability | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:somatic or germline mosaicism may occur n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:somatic or germline mosaicism may occur | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some carrier females have episodes of significant hyperammonemia in infancy or childhood n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients become bedridden n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients become bedridden | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients carry heterozygous mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients carry heterozygous mutations | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients do not reach end-stage renal failure n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients do not reach end-stage renal failure | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients may develop interictal progressive ataxia n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may develop interictal progressive ataxia | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients may have normal brain imaging n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may have normal brain imaging | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients may present with myopathic features n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients may present with myopathic features | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients never achieve sitting n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients never achieve sitting | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients show improvement in muscle power in the teenage years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show improvement in muscle power in the teenage years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some patients show normal development until onset of disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some patients show normal development until onset of disorder | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some pedigrees are consistent with autosomal dominant inheritance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some pedigrees are consistent with autosomal dominant inheritance | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:some response to l-dopa therapy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:some response to l-dopa therapy | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:spasticity is slowly progressive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spasticity is slowly progressive | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:spontaneous bleeding is rare n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneous bleeding is rare | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:spontaneously resolves by 5 to 6 months of age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:spontaneously resolves by 5 to 6 months of age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:subtle facial phenotype compared to other types of hpe n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:subtle facial phenotype compared to other types of hpe | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:survival to 20s-60s in iib n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:survival to 20s-60s in iib | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:surviving males are postzygotic mosaic for ebp mutations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:surviving males are postzygotic mosaic for ebp mutations | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:symptomatic if > 200 repeats n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptomatic if > 200 repeats | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:symptoms are aggravated by febrile illness n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms are aggravated by febrile illness | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:symptoms often improve gradually with age n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms often improve gradually with age | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:symptoms relieved by ovarian suppression n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:symptoms relieved by ovarian suppression | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:t-cell lymphopenia is more severe early in life n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:t-cell lymphopenia is more severe early in life | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three families have been reported (as of september 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families have been reported (as of september 2011) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three families have been reported (last curated july 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three families have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three major clinical forms are apparent n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three major clinical forms are apparent | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three out of 4 reported patients died (last curated may 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three out of 4 reported patients died (last curated may 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three patients have been reported (last curated july 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three types of cystinosis are recognized n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three types of cystinosis are recognized | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three unrelated girls have been reported (as of july 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated girls have been reported (as of july 2011) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three unrelated patients have been reported (last curated december 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three unrelated patients have been reported (last curated july 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated patients have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:three unrelated probands have been reported (last curated january 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:three unrelated probands have been reported (last curated january 2016) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:torso and upper body remain normal in shape and contour n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:torso and upper body remain normal in shape and contour | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:trauma may accelerate symptoms n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:trauma may accelerate symptoms | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:treatment with tnf inhibitors may be beneficial n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:treatment with tnf inhibitors may be beneficial | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two adult sibs have been reported (last curated february 2016) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two adult sibs have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two consanguineous families with 2 patients each have been reported (last curated august 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two consanguineous families with 2 patients each have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two consanguineous lebanese families have been reported (last curated march 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two consanguineous lebanese families have been reported (last curated march 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two families described (last curated november 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two families described (last curated november 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two patients reported (last curated may 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients reported (last curated may 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two patients with a wws phenotype have been reported n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two patients with a wws phenotype have been reported | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two sibs have been reported (last curated july 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs have been reported (last curated july 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two sibs have been reported (last curated november 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two sibs have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two thirds of patients are female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two thirds of patients are female | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated december 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated december 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two unrelated families have been reported (last curated june 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (as of may 2011) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (as of may 2011) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (last curated february 2015) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated february 2015) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two unrelated patients have been reported (last curated july 2014) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients have been reported (last curated july 2014) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:type 3: craniosynostosis, early demise, sporadic n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type 3: craniosynostosis, early demise, sporadic | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:type iiia has both liver and muscle involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type iiia has both liver and muscle involvement | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:type iiib liver involvement only (15% of all cases) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:type iiib liver involvement only (15% of all cases) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:usually fatal by age 5 years n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually fatal by age 5 years | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:usually fatal in infancy n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually fatal in infancy | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:usually favorable response to treatment n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually favorable response to treatment | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:usually lethal in the neonatal period n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually lethal in the neonatal period | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:usually occurs in young adults n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually occurs in young adults | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:usually presents in third to fourth decade (but onset can range from childhood to elderly) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variability in age of onset and severity of disease n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variability in age of onset and severity of disease | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age at diagnosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at diagnosis | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age at onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (childhood to age 50) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (childhood to age 50) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (earliest reported 7 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (earliest reported 7 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (range 9 to 78 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range 9 to 78 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (range infancy to 30 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range infancy to 30 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (range infancy to adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range infancy to adulthood) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age at onset (range infancy to late adulthood) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset (range infancy to late adulthood) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age at onset of arrhythmia (range 12 to 59 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age at onset of arrhythmia (range 12 to 59 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age of onset (childhood to adult) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (childhood to adult) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age of onset (infancy to 63 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (infancy to 63 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age of onset (range 13 to 67 years, median 48 years) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset (range 13 to 67 years, median 48 years) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable age of onset of renal manifestations n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable age of onset of renal manifestations | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable clinical phenotype n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable clinical phenotype | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable expressivity in families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expressivity in families | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable expressivity, even within families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable expressivity, even within families | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable frequency (2 per day up to 1 per month) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable frequency (2 per day up to 1 per month) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable frequency (daily to monthly) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable frequency (daily to monthly) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable pattern of body involvement although symptoms may predominate in upper or lower body n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable phenotype and severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype and severity | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable phenotype within and between oi5 families n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable phenotype within and between oi5 families | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variable severity, some patients have a protracted course with little neurologic involvement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variable severity, some patients have a protracted course with little neurologic involvement | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:virtually all patients with this condition are female n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:virtually all patients with this condition are female | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:visual field and color defects invariably present only in patients with advanced loss of vision n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:visual field and color defects invariably present only in patients with advanced loss of vision | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:wide spectrum of severity n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wide spectrum of severity | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:women affected more than men (3:2) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:women affected more than men (3:2) | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:worldwide frequency of 1 in 2,000,000 n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:worldwide frequency of 1 in 2,000,000 | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:x-linked recessive cytochrome b-negative cgd n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:x-linked recessive cytochrome b-negative cgd | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:young adult onset n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:young adult onset | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 26 / 0.605 -> en:z allele most common, only in caucasians n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:z allele most common, only in caucasians | rel=r_associated | relid=0 | w=26 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 25 / 0.581 -> en:four n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:four | rel=r_associated | relid=0 | w=25 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 22 / 0.512 -> anomalie congénitale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=anomalie congénitale | rel=r_associated | relid=0 | w=22 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> algie articulaire n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=algie articulaire | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> anomalie du développement n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=anomalie du développement | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> arthralgie n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=arthralgie | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> déficience congénitale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=déficience congénitale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> déformation congénitale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=déformation congénitale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> difformité congénitale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=difformité congénitale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> douleur articulaire n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=douleur articulaire | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> douleur dans une articulation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=douleur dans une articulation | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> élargissement du polygone de sustentation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=élargissement du polygone de sustentation | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:birth defect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:birth defect | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:congenital anomaly n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital anomaly | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:congenital defect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital defect | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:congenital malformation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:congenital malformation | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:developmental fault n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:developmental fault | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:gait disturbance n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:gait disturbance | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:joint pain n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:joint pain | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:major physical defect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:major physical defect | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:opportunistic infection n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:opportunistic infection | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:osteoglophonic, derived from greek meaning hollowed out n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:osteoglophonic, derived from greek meaning hollowed out | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:physical defect n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:physical defect | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:retinitis pigmentosa n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:retinitis pigmentosa | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:stokes-adams syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:stokes-adams syndrome | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:Stokes-Adams syndrome n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:Stokes-Adams syndrome | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:teratosis n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:teratosis | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:tumor suppressor gene n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:tumor suppressor gene | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> en:wide-based gait n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:wide-based gait | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> hydramnios n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=hydramnios | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> létal n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=létal | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> létale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=létale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> Maladie congénitale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=Maladie congénitale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> maladie congénitale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=maladie congénitale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> maladie opportuniste n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=maladie opportuniste | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> malformation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=malformation | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> malformation congénitale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=malformation congénitale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> mort du nouveau-né n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=mort du nouveau-né | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> mort néonatale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=mort néonatale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> pathologie congénitale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=pathologie congénitale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> polyhydramnios n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=polyhydramnios | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> présentation du siège n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=présentation du siège | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=rétinite pigmentaire | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire d'apparition tardive n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=rétinite pigmentaire d'apparition tardive | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire liée à la rhodopsine n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=rétinite pigmentaire liée à la rhodopsine | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> rétinite pigmentaire sénile n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=rétinite pigmentaire sénile | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> rétinopathie pigmentaire n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=rétinopathie pigmentaire | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> septicémie du nouveau-né n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=septicémie du nouveau-né | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> septicémie néonatale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=septicémie néonatale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> tare congénitale n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=tare congénitale | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) -- r_associated #0: 20 / 0.465 -> vice de conformation n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=vice de conformation | rel=r_associated | relid=0 | w=20

≈ 6192 relations entrantes déficience congénitale --- r_associated #0: 265 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=déficience congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=265 en:congenital abnormality --- r_associated #0: 259 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital abnormality | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=259 en:congenital anomaly --- r_associated #0: 254 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital anomaly | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=254 déformation congénitale --- r_associated #0: 251 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=déformation congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=251 malformation congénitale --- r_associated #0: 246 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=246 anomalie congénitale --- r_associated #0: 244 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=anomalie congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=244 difformité congénitale --- r_associated #0: 205 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=difformité congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=205 maladie congénitale --- r_associated #0: 203 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=maladie congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=203 en:congenital defect --- r_associated #0: 200 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital defect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=200 pathologie congénitale --- r_associated #0: 195 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=pathologie congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=195 mort du nouveau-né --- r_associated #0: 186 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=mort du nouveau-né | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=186 mort néonatale --- r_associated #0: 182 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=mort néonatale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=182 en:neonatal death --- r_associated #0: 180 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=180 septicémie du nouveau-né --- r_associated #0: 168 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=septicémie du nouveau-né | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=168 septicémie néonatale --- r_associated #0: 165 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=septicémie néonatale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=165 douleur dans une articulation --- r_associated #0: 160 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=douleur dans une articulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=160 en:neonatal sepsis --- r_associated #0: 158 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal sepsis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=158 en:arthralgia --- r_associated #0: 151 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:arthralgia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=151 algie articulaire --- r_associated #0: 150 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=algie articulaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=150 arthralgie --- r_associated #0: 145 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=arthralgie | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=145 douleur articulaire --- r_associated #0: 145 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=douleur articulaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=145 en:congenital malformation --- r_associated #0: 130 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital malformation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=130 en:birth defect --- r_associated #0: 120 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:birth defect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=120 polyhydramnios --- r_associated #0: 99 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=polyhydramnios | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=99 en:polyhydramnios --- r_associated #0: 95 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:polyhydramnios | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=95 en:joint pain --- r_associated #0: 90 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:joint pain | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=90 tare congénitale --- r_associated #0: 80 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=tare congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=80 en:broad-based gait --- r_associated #0: 61 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:broad-based gait | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=61 vice de conformation --- r_associated #0: 58 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=vice de conformation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=58 élargissement du polygone de sustentation --- r_associated #0: 58 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=élargissement du polygone de sustentation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=58 en:wide-based gait --- r_associated #0: 55 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wide-based gait | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=55 en:physical defect --- r_associated #0: 49 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:physical defect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=49 en:teratosis --- r_associated #0: 47 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:teratosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=47 en:major physical defect --- r_associated #0: 44 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:major physical defect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=44 anomalie du développement --- r_associated #0: 43 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=anomalie du développement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=43 en:hepatomegaly improves with age and disappears around puberty --- r_associated #0: 43 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hepatomegaly improves with age and disappears around puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=43 en:mean survival 5 months --- r_associated #0: 43 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean survival 5 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=43 en:no situs inversus --- r_associated #0: 43 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no situs inversus | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=43 en:penetrance estimated to be 80% --- r_associated #0: 43 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:penetrance estimated to be 80% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=43 en:premature aging syndrome --- r_associated #0: 43 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:premature aging syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=43 en:some patients never gain ambulation or become wheelchair-bound --- r_associated #0: 43 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients never gain ambulation or become wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=43 en:usually symptomatic in adulthood with history of weakness since infancy or childhood --- r_associated #0: 43 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=43 en:adult onset from second to seventh decade --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset from second to seventh decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:age of onset usually 1 week to 2 years --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset usually 1 week to 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:autoimmune features are variable --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autoimmune features are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:late infantile onset 6-24 months --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late infantile onset 6-24 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:late-onset, slowly progressing form of retinitis pigmentosa --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late-onset, slowly progressing form of retinitis pigmentosa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:later onset may occur --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:mean age at onset 46.5 years (range 19-64) --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 46.5 years (range 19-64) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:six patients have been reported (as of october 2011) --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:six patients have been reported (as of october 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:small placenta --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:small placenta | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:three fetuses from 1 family have been reported (last curated august 2015) --- r_associated #0: 42 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three fetuses from 1 family have been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=42 en:death in childhood may occur due to end-stage renal disease --- r_associated #0: 41 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in childhood may occur due to end-stage renal disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=41 en:icelandic families --- r_associated #0: 41 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:icelandic families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=41 en:increased recurrence risk with parental translocation --- r_associated #0: 41 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased recurrence risk with parental translocation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=41 en:leakage of fluid ('gusher') if the stapes is disturbed --- r_associated #0: 41 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:leakage of fluid ('gusher') if the stapes is disturbed | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=41 en:milder form with onset in childhood, absence seizures, and learning difficulties --- r_associated #0: 41 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:milder form with onset in childhood, absence seizures, and learning difficulties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=41 présentation du siège --- r_associated #0: 41 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=présentation du siège | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=41 en:childhood onset --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:early death in males --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death in males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:incidence of 1 in 57,000 --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 57,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:intrafamilial phenotypic variation may occur --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial phenotypic variation may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:juvenile rigid early-onset form more often paternally inherited --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:juvenile rigid early-onset form more often paternally inherited | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:lesions are present at birth or become apparent in infancy --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lesions are present at birth or become apparent in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:majority of children die before age 2 --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of children die before age 2 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:mean age of onset about 62 years (45-79 years) --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset about 62 years (45-79 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:opportunistic infection --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:opportunistic infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:retinal holes were present in an asymptomatic female carrier --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:retinal holes were present in an asymptomatic female carrier | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 létal --- r_associated #0: 40 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=létal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=40 en:bleeding is usually delayed-onset after challenge --- r_associated #0: 39 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bleeding is usually delayed-onset after challenge | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=39 en:genetic heterogeneity (see 161800) --- r_associated #0: 39 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 161800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=39 en:incidence ranges from 1 in 40,000 to 1 in 350,000 births --- r_associated #0: 39 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=39 en:infants may have acute life-threatening crises --- r_associated #0: 39 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infants may have acute life-threatening crises | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=39 en:lethal --- r_associated #0: 39 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lethal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=39 en:medullary thyroid cancer is aggressive and can occur in childhood --- r_associated #0: 39 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:medullary thyroid cancer is aggressive and can occur in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=39 en:breech presentation --- r_associated #0: 38 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:breech presentation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=38 en:death due to rapidly progressive pulmonary fibrosis in infancy --- r_associated #0: 38 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death due to rapidly progressive pulmonary fibrosis in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=38 en:death in infancy secondary to respiratory insufficiency/pneumonia --- r_associated #0: 38 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy secondary to respiratory insufficiency/pneumonia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=38 en:death in majority of infants soon after birth --- r_associated #0: 38 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in majority of infants soon after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=38 en:female carriers may be mildly affected --- r_associated #0: 38 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may be mildly affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=38 en:highly variable phenotype, even within families --- r_associated #0: 38 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype, even within families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=38 en:no consistent dysmorphic facial phenotype --- r_associated #0: 38 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no consistent dysmorphic facial phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=38 en:age of onset of distal lower limb weakness 8-16 years --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset of distal lower limb weakness 8-16 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:age of onset varies ranging from 3 weeks to 22 years --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset varies ranging from 3 weeks to 22 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:favorable response to 3,4-diaminopyridine --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to 3,4-diaminopyridine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:heterozygotes exhibit blue sclerae and soft velvety skin --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes exhibit blue sclerae and soft velvety skin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:heterozygous females more mildly affected than hemizygous males --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous females more mildly affected than hemizygous males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:lifelong occurrence --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lifelong occurrence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:may be asymptomatic --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:mean age of onset 22 years (range 5-54) --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 22 years (range 5-54) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:onset usually in childhood or adolescence --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in childhood or adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:relatively mild phenotype --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relatively mild phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:variable features present --- r_associated #0: 37 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable features present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=37 en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) --- r_associated #0: 36 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=36 en:pyogenic arthritis, pyoderma gangrenosum and acne --- r_associated #0: 36 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pyogenic arthritis, pyoderma gangrenosum and acne | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=36 en:treatment with sulfonylurea can be effective --- r_associated #0: 36 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with sulfonylurea can be effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=36 en:variable expression --- r_associated #0: 36 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=36 en:20% die before age one (usually secondary to renal or laryngeal defects) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:20% die before age one (usually secondary to renal or laryngeal defects) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:adult onset (20 to 50 years) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (20 to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:adult onset has been reported --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:affected individuals have a relatively mild ichthyosis phenotype --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals have a relatively mild ichthyosis phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:age at onset 14 to 44 years --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset 14 to 44 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:age at onset 8 to 55 years (mean 40 years) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset 8 to 55 years (mean 40 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:all cases sporadic (18 males, 7 females) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all cases sporadic (18 males, 7 females) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:allelic disorder to potassium-aggravated myotonia (608390) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to potassium-aggravated myotonia (608390) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:allelic to metaphyseal dysplasia without hypotrichosis (250460) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:average age at onset between 40 and 50 years --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at onset between 40 and 50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:average onset of seizures 6 months (range 3-12) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average onset of seizures 6 months (range 3-12) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:caused by inheritance of the mutation on the paternal allele (imprinting) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by inheritance of the mutation on the paternal allele (imprinting) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:clinical variability, both pure and complicated forms --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical variability, both pure and complicated forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:contractures other than plantar are less common and less severe --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contractures other than plantar are less common and less severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:death in early childhood may occur --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in early childhood may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:death often occurs in childhood --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often occurs in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:deposits may recur in graft after corneal transplantation --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:deposits may recur in graft after corneal transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:diagnosis within the first 3 months of life --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis within the first 3 months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:episodes are triggered by cold exposure --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes are triggered by cold exposure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:episodes last from several hours to days --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes last from several hours to days | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:estimated incidence of 1-2 in 10,000 --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated incidence of 1-2 in 10,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:fractures can occur in utero, during labor and delivery, or in newborn period --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fractures can occur in utero, during labor and delivery, or in newborn period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:glucocorticoid deficiency occurs in mid-childhood --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:glucocorticoid deficiency occurs in mid-childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:hearing loss ma be fluctuating or progressive --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss ma be fluctuating or progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:heterozygous female carriers may manifest symptoms --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous female carriers may manifest symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:high mortality in infancy and early childhood (in some patients) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high mortality in infancy and early childhood (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:high recurrence rate --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high recurrence rate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:highly penetrant, but low morbidity --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly penetrant, but low morbidity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:highly variable expression --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable expression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:hyperpigmented patches increased in size and number with age --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hyperpigmented patches increased in size and number with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:incidence 1 in 15,000-28,000 births --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1 in 15,000-28,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:incidence 1 in 8,000 live births --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1 in 8,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:incidence of 1 in 10,000 live births --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 10,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:incidence of 1 in 100,000 to 125,000 at birth --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 100,000 to 125,000 at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:incidence worldwide of 1 in 30,000 to 50,000 --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence worldwide of 1 in 30,000 to 50,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:incomplete penetrance with 45 to 51 repeats --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance with 45 to 51 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:increased sensitivity to valproic acid toxicity --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased sensitivity to valproic acid toxicity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:individuals do not develop erythrocytosis under hypoxic conditions --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:individuals do not develop erythrocytosis under hypoxic conditions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:infantile onset with hepatic involvement --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infantile onset with hepatic involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:initial development may appear normal --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:initial development may appear normal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:interfamilial and intrafamilial clinical heterogeneity --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:interfamilial and intrafamilial clinical heterogeneity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:intrafamilial variability in nail changes --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial variability in nail changes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:joint symptoms begin in third or fourth decade --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:joint symptoms begin in third or fourth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:later onset can also occur (up to age 17 years) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset can also occur (up to age 17 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:later onset of hearing loss in some patients --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset of hearing loss in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:liver disease may be the most predominant finding --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:liver disease may be the most predominant finding | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:loss of tumor suppressor gene --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:loss of tumor suppressor gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:lower limb weakness is presenting feature --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lower limb weakness is presenting feature | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:majority of cases are male --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases are male | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:majority of cases have been sporadic --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases have been sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:majority of children die between 6 months and 5 yrs --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of children die between 6 months and 5 yrs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:males may be more affected than females --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males may be more affected than females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:manifests in infancy (including neonatal lethal) or childhood --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:manifests in infancy (including neonatal lethal) or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:may be lethal if untreated --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be lethal if untreated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:may be lethal in the neonatal period --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be lethal in the neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:may be triggered by minor head trauma --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be triggered by minor head trauma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:mean age at onset 15.2 years --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 15.2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:mean age at onset of bone fractures, 24 years --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset of bone fractures, 24 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:midline defects --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:midline defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:most patients become wheelchair-bound in the second or third decades --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients become wheelchair-bound in the second or third decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:one lebanese family has been reported --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one lebanese family has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:prevalence of true hypoprothrombinemia is 1 in 2 million --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of true hypoprothrombinemia is 1 in 2 million | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:short umbilical cord --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:short umbilical cord | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:skeletal and facial features are variable --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skeletal and facial features are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:some patients may present with myopathic features --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may present with myopathic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:some patients may show normal early development before seizure onset --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may show normal early development before seizure onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:some patients show a favorable response to sulfonylurea treatment --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show a favorable response to sulfonylurea treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:subtype 3a comprises myoclonus and dementia --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subtype 3a comprises myoclonus and dementia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:two unrelated consanguineous families have been reported (last curated july 2015) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated consanguineous families have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:variable age at onset (late childhood to adult) --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (late childhood to adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:variable phenotype, particularly with regard to cortical malformations --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype, particularly with regard to cortical malformations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:virtually all patients with this condition are female --- r_associated #0: 35 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:virtually all patients with this condition are female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=35 en:a milder form has also been reported --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a milder form has also been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:adult onset of neurologic symptoms has been reported in 1 family --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset of neurologic symptoms has been reported in 1 family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:age of onset between 5 and 10 years of age --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset between 5 and 10 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:allelic disorder to early-onset sarcoidosis (609464) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to early-onset sarcoidosis (609464) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:anemia is responsive to corticosteroid treatment --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anemia is responsive to corticosteroid treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:associated with smoking --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with smoking | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:ataxia is nonprogressive --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ataxia is nonprogressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:based on report of 2 sibs in 2008 --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 sibs in 2008 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:chronic course with exacerbations and remissions --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:chronic course with exacerbations and remissions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:clinical presentation varies from asymptomatic to fulminant course --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical presentation varies from asymptomatic to fulminant course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:clinically 'silent' nystagmus evident on eye movement recording in carrier females --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:color vision defects may not be part of the phenotype --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:color vision defects may not be part of the phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:cutaneous symptoms induced by cold exposure or cooling --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cutaneous symptoms induced by cold exposure or cooling | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:death in third or fourth decades, usually due to respiratory infection --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in third or fourth decades, usually due to respiratory infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:death secondary to renal failure, cardiac or cerebrovascular disease --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death secondary to renal failure, cardiac or cerebrovascular disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:death secondary to respiratory infection or failure before age 2 years --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death secondary to respiratory infection or failure before age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:death usually in newborn period or infancy --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in newborn period or infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:diurnal fluctuation --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diurnal fluctuation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:diurnal fluctuation of neurologic symptoms --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diurnal fluctuation of neurologic symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:dysmorphic facial features reported in 1 family --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dysmorphic facial features reported in 1 family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:early death due to sepsis --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death due to sepsis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:episode frequency is monthly to yearly, and decreases with age --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episode frequency is monthly to yearly, and decreases with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:episodes brought on by fasting or infection --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes brought on by fasting or infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:estimated frequence 1/3000 to 1/5000 --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated frequence 1/3000 to 1/5000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:fatal in first few months of life in most cases --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatal in first few months of life in most cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:favorable response to ursodeoxycholic acid treatment --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to ursodeoxycholic acid treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:few familial (parent offspring) cases reported --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:few familial (parent offspring) cases reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:first fracture in early childhood --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:first fracture in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:fracture frequency decreased post puberty --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fracture frequency decreased post puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:gait disturbance --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gait disturbance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:genetic heterogeneity (see 116800 for summary) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 116800 for summary) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:genetic heterogeneity (see 605407) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 605407) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:genetic heterogeneity (see 609192) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 609192) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:gradual progression --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gradual progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:high frequency of levodopa-induced dyskinesias --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency of levodopa-induced dyskinesias | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:highly variable age at onset (range 9 to 69 years) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable age at onset (range 9 to 69 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:highly variable phenotype, some adults may be asymptomatic --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype, some adults may be asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:hyperlipidemia may be partially responsive to fat-restricted diet --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hyperlipidemia may be partially responsive to fat-restricted diet | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:immunologic defects are variable --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:immunologic defects are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:incidence of 1 in 50,000 to 1 in 100,000 --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 50,000 to 1 in 100,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:incomplete penetrance (range 13% to 77% by 50 years of age) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance (range 13% to 77% by 50 years of age) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:incomplete penetrance in carrier females --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance in carrier females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:increased aneuploidy in offspring --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased aneuploidy in offspring | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:internal organ rupture may occur --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:internal organ rupture may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:intrafamilial variability in degree of hypotrichosis --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial variability in degree of hypotrichosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:late adult onset (after age 55 years) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late adult onset (after age 55 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:late-adult onset --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late-adult onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:lifetime risk of breast cancer in mutation carriers is 60 to 85% --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:liver size returns to normal after 3 months to 3 years --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:liver size returns to normal after 3 months to 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:loss of independent ambulation in the second decade --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:loss of independent ambulation in the second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:lower limb involvement occurs before upper limb involvement --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lower limb involvement occurs before upper limb involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:madelung deformity more frequent and more severe in females --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:madelung deformity more frequent and more severe in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:majority of patients have normal intelligence --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of patients have normal intelligence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:male to female ratio 4:1 --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male to female ratio 4:1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:male to female ratio is greater than 3:1 --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male to female ratio is greater than 3:1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:males tend to have earlier onset than females --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males tend to have earlier onset than females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:marked intrafamilial and interfamilial variability --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked intrafamilial and interfamilial variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:marked intrafamilial variability of clinical features --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked intrafamilial variability of clinical features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:marked phenotypic variability, even within an individual --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked phenotypic variability, even within an individual | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:maternal anticipation bias --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:maternal anticipation bias | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:may result in death in neonatal period or early childhood --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may result in death in neonatal period or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:mean age at diagnosis 8.8 years (range 0.2-23 years) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:mean age at onset 10.6 years --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 10.6 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:mean age at onset 66.8 years (range 47-77) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 66.8 years (range 47-77) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:mean age at onset is 13 years (range 6 to 43) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset is 13 years (range 6 to 43) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:mean age at onset of dementia is 57 years --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset of dementia is 57 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:mean age of onset 50 to 52 years --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 50 to 52 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:median age of onset of nail dystrophy - 7 years (range 1-6 years) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:median onset of neurologic symptoms is 13 years (range 5 to 28) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:mild asymmetric regional disease (e.g. 180380.0029) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild asymmetric regional disease (e.g. 180380.0029) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:miscellaneous --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:miscellaneous | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:multiple prenatal fractures --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:multiple prenatal fractures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:no extraocular findings --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no extraocular findings | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:onset of visual dysfunction in early childhood --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of visual dysfunction in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:progressive clinical course with onset in childhood --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive clinical course with onset in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:retinitis pigmentosa --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:retinitis pigmentosa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:slight male predominance (3:2) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slight male predominance (3:2) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:some patients may show a favorable response to oral coenzyme q10 supplementation --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may show a favorable response to oral coenzyme q10 supplementation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:symptoms precipitated by stress, exertion, fatigue, alcohol --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms precipitated by stress, exertion, fatigue, alcohol | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:therapy is placement of implantable cardioverter defibrillator (icd) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:therapy is placement of implantable cardioverter defibrillator (icd) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:two sibs have been reported (last curated november 2015) --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs have been reported (last curated november 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 rétinite pigmentaire d'apparition tardive --- r_associated #0: 34 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire d'apparition tardive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=34 en:50% of cases represent new mutations associated with advanced paternal age --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:50% of cases represent new mutations associated with advanced paternal age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:Stokes-Adams syndrome --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:Stokes-Adams syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:adult onset (wide range of age) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (wide range of age) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:aortic dissection may occur in second decade of life --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:aortic dissection may occur in second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:associated with iron deficiency anemia --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with iron deficiency anemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:boys are more often affected than girls (3:2) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:boys are more often affected than girls (3:2) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:death from pneumonia --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death from pneumonia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:death in perinatal period --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in perinatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:earlier onset is associated with a more severe disorder --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:earlier onset is associated with a more severe disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:early death often occurs from cardiac failure or infection --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death often occurs from cardiac failure or infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:end-stage renal failure may occur --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:end-stage renal failure may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:fatal before age 2 years --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatal before age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:four unrelated patients have been reported (last curated june 2014) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated patients have been reported (last curated june 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:frequency of infections decreases after 3 years of age --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequency of infections decreases after 3 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:full recovery after attacks --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:full recovery after attacks | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:hepatic failure develops in first months of life --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hepatic failure develops in first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:highly variable clinical phenotype --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable clinical phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:incidence 1/100,000 - 1/200,000 live births --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1/100,000 - 1/200,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:incidence of 1 in 120,000 live births --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 120,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:incidence of 1 in 3,500 boys --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 3,500 boys | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:incomplete penetrance --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:incomplete penetrance in some families --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance in some families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:independent ambulation is maintained --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:independent ambulation is maintained | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:infantile form has onset within first 6 months of life --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infantile form has onset within first 6 months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:infants show normal size and appearance --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infants show normal size and appearance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:infections may precipitate ketotic episodes --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infections may precipitate ketotic episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:ketogenic diet may be effective --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ketogenic diet may be effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:lack of treatment results in early death --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lack of treatment results in early death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:left side involvement more frequent than right side involvement --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:left side involvement more frequent than right side involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:lesions apparent at birth --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lesions apparent at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:less than 20% have onset at 18 years of age or less (dominant and recessive) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:levodopa-induced dyskinesias --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:levodopa-induced dyskinesias | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:live born infants die within few hours of birth --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:live born infants die within few hours of birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:majority die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority die in neonatal period secondary to respiratory insufficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:males carry mutations in the somatic mosaic state --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males carry mutations in the somatic mosaic state | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:may occur in adults (also in pregnancy) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may occur in adults (also in pregnancy) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:may progress to other body regions after many years --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may progress to other body regions after many years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:may result in early death from severe diarrhea --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may result in early death from severe diarrhea | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:may show good response to levodopa --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may show good response to levodopa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:mean age of onset 31 years (range 5-60) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 31 years (range 5-60) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:median age at onset 23 years --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age at onset 23 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:median age of diagnosis is 28 years --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age of diagnosis is 28 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:onset of symptoms in early childhood in most patients --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in early childhood in most patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:osteoglophonic, derived from greek meaning hollowed out --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:osteoglophonic, derived from greek meaning hollowed out | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:poor response to l-dopa --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poor response to l-dopa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:presence of additional features is variable --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presence of additional features is variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:recurrent bacterial infection --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent bacterial infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:short survival (less than 10 years after onset) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:short survival (less than 10 years after onset) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:some patients have resolution of symptoms in first year of life --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have resolution of symptoms in first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:stokes-adams syndrome --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stokes-adams syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:symptoms present from infancy or early childhood --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms present from infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:two unrelated families have been reported (last curated june 2015) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:two unrelated families have been reported (last curated may 2013) --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated may 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 en:visual impairment is present at birth and is progressive --- r_associated #0: 32 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:visual impairment is present at birth and is progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=32 Maladie congénitale --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Maladie congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:all reported mutations have occurred de novo --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all reported mutations have occurred de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:approximately 40% of cases are inherited or new germline mutations --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 40% of cases are inherited or new germline mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:associated with hemodialysis --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with hemodialysis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:associated with increased frequency of autoimmune diseases --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with increased frequency of autoimmune diseases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:based on one sib pair each in their seventies --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one sib pair each in their seventies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:cold-induced sweating develops late in the first decade --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cold-induced sweating develops late in the first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:compound heterozygosity common --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:compound heterozygosity common | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:death in infancy in 2 patients --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy in 2 patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:discordant phenotype among monozygotic twins has been reported --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:discordant phenotype among monozygotic twins has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:early adult onset has been reported --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early adult onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:early death (usually by 3 years of age) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death (usually by 3 years of age) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:early death occurs in affected infants (days to months after disease onset) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death occurs in affected infants (days to months after disease onset) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:early onset (9-48 years, but reported up to 68 years) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early onset (9-48 years, but reported up to 68 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:elevated body temperatures to 42 degrees celsius --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:elevated body temperatures to 42 degrees celsius | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:exacerbated by stress --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:exacerbated by stress | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:excessive postsurgical blood loss --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:excessive postsurgical blood loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:great variation in extent of hypertrophy in mutation-positive individuals --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:great variation in extent of hypertrophy in mutation-positive individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:hairy elbows become apparent in infancy and regress during adolescence --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hairy elbows become apparent in infancy and regress during adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:hearing loss affects all frequencies --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss affects all frequencies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:hearing loss is usually severe by age 20 years --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss is usually severe by age 20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:hematuria may become apparent after respiratory infections (synpharyngitic) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hematuria may become apparent after respiratory infections (synpharyngitic) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:high pain threshold --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high pain threshold | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:hip joint replacement often necessary --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hip joint replacement often necessary | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:homozygotes have more severe disease with earlier onset of thrombosis --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:homozygotes have more severe disease with earlier onset of thrombosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:in severe attacks, hemiplegia or coma may last days to weeks --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in severe attacks, hemiplegia or coma may last days to weeks | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:incidence 5-50 per million (children) and 10-40 per million (adults) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 5-50 per million (children) and 10-40 per million (adults) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:incidence of 1 in 250,000 births --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 250,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:incomplete, but high, penetrance --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete, but high, penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:intrafamilial variability in number of missing teeth --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial variability in number of missing teeth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:isolated finding --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:isolated finding | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:juvenile form has onset between 4 and 19 years --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:juvenile form has onset between 4 and 19 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:late-adult onset has been reported --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late-adult onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:long headache duration (greater than 12 hours) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:long headache duration (greater than 12 hours) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:male predominance of 3:1 to 5:1 --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male predominance of 3:1 to 5:1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:male-to-female ratio of 3:2 in childhood cases --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male-to-female ratio of 3:2 in childhood cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:many patients require cardiac pacemakers --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many patients require cardiac pacemakers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:marked clinical variability within families --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked clinical variability within families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:mean age at onset 35 years (range 20-60) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 35 years (range 20-60) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:mean age at onset 57-60 years --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 57-60 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:mean age of onset 20.6 years --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 20.6 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:medial onset of end stage renal disease 13 years --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:medial onset of end stage renal disease 13 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:median survival 5.7 years --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median survival 5.7 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:one family and 2 unrelated patients have been reported (last curated december 2015) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family and 2 unrelated patients have been reported (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:one patient reported (last curated november 2012) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:onset in early infancy --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:precipitation by pregnancy --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitation by pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:prevalent among the amish --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent among the amish | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:seizures remit spontaneously by age 5 years --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures remit spontaneously by age 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:skewed x-inactivation, with complete skewing in some individuals --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skewed x-inactivation, with complete skewing in some individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:some patients show improvement during summer or with fever --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show improvement during summer or with fever | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:three unrelated patients have been reported (last curated july 2015) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:two families with confirmed adra2b mutations have been reported (last curated june 2015) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:two unrelated families have been reported (last curated october 2015) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated october 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:two unrelated patients have been reported (last curated august 2015) --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 hydramnios --- r_associated #0: 31 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydramnios | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=31 en:about 20% of female mutation carriers may show mild muscle weakness --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 20% of female mutation carriers may show mild muscle weakness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:adrenal insufficiency usually develops later (first decade) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adrenal insufficiency usually develops later (first decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:associated with advanced paternal age --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with advanced paternal age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:asymmetric muscle involvement --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:asymmetric muscle involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:autosomal recessive disorder tends to be more severe --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive disorder tends to be more severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:average onset 6-10 months (range 3-24) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average onset 6-10 months (range 3-24) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:based on report of 2 individuals (last curated november 2013) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 individuals (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:both autosomal dominant and autosomal recessive inheritance has been described --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both autosomal dominant and autosomal recessive inheritance has been described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:carrier females may have mild intellectual disability --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females may have mild intellectual disability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:chelation therapy can result in clinical improvement --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:chelation therapy can result in clinical improvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:child often can sit unsupported but never ambulates --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:child often can sit unsupported but never ambulates | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:clonidine can alleviate hyperhidrosis --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clonidine can alleviate hyperhidrosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:congenital onset --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:death usually in infancy due to respiratory failure --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in infancy due to respiratory failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:developmental fault --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:developmental fault | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:disease shows slow progression --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disease shows slow progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:episodes occur 30 minutes to 3 hours after exposure to cold --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes occur 30 minutes to 3 hours after exposure to cold | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:episodes tend to decrease with age --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes tend to decrease with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:facial dysmorphic features are mild --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:facial dysmorphic features are mild | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:fatal without lung transplant --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatal without lung transplant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:feet are unaffected in some patients --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:feet are unaffected in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:fishy body odor --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fishy body odor | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:gastric suction pump, home model, portable or stationary, electric --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gastric suction pump, home model, portable or stationary, electric | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:good response to steroid treatment --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to steroid treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:hair regrowth may occur later in life --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hair regrowth may occur later in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:hands clenched at birth but loosen in infancy --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hands clenched at birth but loosen in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:hearing loss occurs later if at all --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss occurs later if at all | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:hearing loss progresses to profound deafness --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss progresses to profound deafness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:heterozygotes are not affected --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes are not affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:heterozygotes may exhibit syndromic manifestations --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes may exhibit syndromic manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:heterozygous females may exhibit variable degrees of enzyme deficiency --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous females may exhibit variable degrees of enzyme deficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:heterozygous mutation carriers may have late-onset of mild symptoms --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous mutation carriers may have late-onset of mild symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:highly variable frequency and duration of episodes --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable frequency and duration of episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:highly variable phenotype, ranging from asymptomatic to severe --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype, ranging from asymptomatic to severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:improvement with age --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:improvement with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:in the absence of hydrops, death occurs within 3 months --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in the absence of hydrops, death occurs within 3 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:incidence 1 in 30,000 male births --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1 in 30,000 male births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:incidence 1-1.5/1,000 live births --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1-1.5/1,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:incidence of 1 in 5,000 to 1 in 10,000 --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 5,000 to 1 in 10,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:incomplete penetrance (50%) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance (50%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:infantile form accounts for 90% of cases --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infantile form accounts for 90% of cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:initial hearing loss is mild progressing to severe or profound by the seventh decade --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:intermittent exacerbations --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intermittent exacerbations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:late-adult onset (usually after age 50 years) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late-adult onset (usually after age 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:liver symptoms improve with age and disappear after puberty --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:liver symptoms improve with age and disappear after puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:loss of independent ambulation (in 2 of 3 patients) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:loss of independent ambulation (in 2 of 3 patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:major cause of death is heart failure --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:major cause of death is heart failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:majority are isolated cases --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority are isolated cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:majority of patients die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of patients die in neonatal period secondary to respiratory insufficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:male-to-female ratio, 1.8 to 1 --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male-to-female ratio, 1.8 to 1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:males are most severely affected, but females can also be affected --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males are most severely affected, but females can also be affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:manifestations continue to appear until 5th decade --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:manifestations continue to appear until 5th decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:marked heterogeneity --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked heterogeneity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:maternal oligohydramnios --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:maternal oligohydramnios | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:may be fatal in infancy --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be fatal in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:may be progressive --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:may not be clinically manifest until middle life --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may not be clinically manifest until middle life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:mean age at onset 22 years (range 7 to 50 years) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 22 years (range 7 to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:mean age at onset 28 years --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 28 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:mean age at onset of migraines is 42 years --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset of migraines is 42 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:mean age of diagnosis 40 years --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of diagnosis 40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:mean age of onset 16 to 19 years --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 16 to 19 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:mean age of onset, 5 years --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset, 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:onset in first decade (as early as infancy in some) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade (as early as infancy in some) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:onset in first decade after normal early development --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade after normal early development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:precipitated by fatigue or alcohol --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitated by fatigue or alcohol | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:precipitated by general anesthesia --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitated by general anesthesia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:prevalence estimated at 1 in 50,000 --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence estimated at 1 in 50,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:sensorineural hearing loss may be presenting feature --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sensorineural hearing loss may be presenting feature | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:severe ambulatory restriction --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe ambulatory restriction | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:single umbilical artery --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:single umbilical artery | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:surviving males are postzygotic mosaic for ebp mutations --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:surviving males are postzygotic mosaic for ebp mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:three unrelated families have been reported (last curated october 2015) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated october 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:two unrelated families have been reported (last curated february 2016) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:variable age of onset (7-59 years) --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (7-59 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 en:weakness during pregnancy in some affected females has been reported --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:weakness during pregnancy in some affected females has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 léthal --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=léthal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 rétinopathie pigmentaire --- r_associated #0: 30 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinopathie pigmentaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=30 Hydramnios --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Hydramnios | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:age of onset/diagnosis 12-35 years --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset/diagnosis 12-35 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:asymptomatic patients may show changes on sd-oct --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:asymptomatic patients may show changes on sd-oct | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:blistering may worsen during the summer --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:blistering may worsen during the summer | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:both mutations occurred de novo --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both mutations occurred de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:can also be caused by contiguous gene deletion on chromosome 22q11.2 --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:caused by somatic mutations --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by somatic mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:dwarfism not detectable at birth --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dwarfism not detectable at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:early death may occur --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:extrapyramidal signs show a favorable response to levodopa --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:extrapyramidal signs show a favorable response to levodopa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:eye involvement begins at birth, neurologic involvement begins later --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:eye involvement begins at birth, neurologic involvement begins later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:facial palsy often transient in infancy --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:facial palsy often transient in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:familial occurrence is rare --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:familial occurrence is rare | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:favorable response to ephedrine treatment --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to ephedrine treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:foot deformities are present in infancy or childhood --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:foot deformities are present in infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:four unrelated families have been reported (last curated august 2015) --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated families have been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:four unrelated families have been reported (last curated september 2015) --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated families have been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:hearing loss occurs in late childhood --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss occurs in late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:heterozygous females may have situs inversus or other midline defects --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous females may have situs inversus or other midline defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:highly variable organ involvement and severity --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable organ involvement and severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:highly variable phenotype and severity --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype and severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:incidence - 1/16,000 live births --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence - 1/16,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:incidence of 1 in 25,000 livebirths --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 25,000 livebirths | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:incidence of 1 in 300,000 --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 300,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:increased paternal age --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased paternal age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:increased risk of developing early-onset aggressive cancers --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased risk of developing early-onset aggressive cancers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:increased risk of myeloproliferative disorders in those with somatic mutations --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased risk of myeloproliferative disorders in those with somatic mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:infantile onset --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infantile onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:infantile, late-infantile, juvenile, and adult onset have been reported --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infantile, late-infantile, juvenile, and adult onset have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:infants are stillborn or die shortly after birth --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infants are stillborn or die shortly after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:intermediate expression in females --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intermediate expression in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:later onset (late childhood to young adult) has been reported --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset (late childhood to young adult) has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:likely allelic to sc phocomelia syndrome (269000) --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:likely allelic to sc phocomelia syndrome (269000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:lipodystrophic appearance may be mild or not present --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lipodystrophic appearance may be mild or not present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:liveborn often die within first week of life --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:liveborn often die within first week of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:major fluid shifts may occur in severe cases --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:major fluid shifts may occur in severe cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:many adults with typical form remain ambulatory --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many adults with typical form remain ambulatory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:many patients become wheelchair-bound --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many patients become wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:may be precipitated by minor illness (e.g., viral infection, fever) --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be precipitated by minor illness (e.g., viral infection, fever) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:mean age at onset 32 years --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 32 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:mean age at termination 3 to 4 years --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at termination 3 to 4 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:median age at diagnosis, 59 years --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age at diagnosis, 59 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:some patients may lose independent ambulation --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may lose independent ambulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:syncope --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:syncope | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:variable severity of clinical and radiologic manifestations --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity of clinical and radiologic manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 rétinite pigmentaire sénile --- r_associated #0: 29 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire sénile | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=29 en:absence seizures show onset between 3.5 and 4 years --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:absence seizures show onset between 3.5 and 4 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:adult onset --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:age of onset ranges from 1 to 47 years --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset ranges from 1 to 47 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:autosomal recessive inheritance with earlier onset has been reported in 3 patients --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:average age at diagnosis 17.8 years (range 2-35 years) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at diagnosis 17.8 years (range 2-35 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:based on one jordanian family (last curated august 2015) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one jordanian family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:based on one large dutch family (last curated august 2015) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one large dutch family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:blisters are precipitated by minor skin trauma --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:blisters are precipitated by minor skin trauma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:cardiomyopathy is not a feature --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cardiomyopathy is not a feature | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:clinical and biochemical abnormalities disappear with age --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical and biochemical abnormalities disappear with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:death in the first years of life --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in the first years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:death usually in childhood --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:death usually in first year of life --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:diarrhea worsens in parallel with increases in severity of skin disease --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diarrhea worsens in parallel with increases in severity of skin disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:distinct from pseudopili annulati (613241) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct from pseudopili annulati (613241) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:drug-induced dyskinesias occur in a subset of patients --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:drug-induced dyskinesias occur in a subset of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:evidence of systemic iron overload seen in 1 family --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:evidence of systemic iron overload seen in 1 family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:excessive skin picking of sores --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:excessive skin picking of sores | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:female carriers may be affected --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may be affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:genetic heterogeneity (see mcc1 deficiency 210200) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see mcc1 deficiency 210200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:high frequencies affected before low frequencies --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequencies affected before low frequencies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:high frequency of absence seizures (several per day) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency of absence seizures (several per day) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:highly variable frequency and severity of attacks --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable frequency and severity of attacks | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:highly variable severity and features --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable severity and features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:hyperkeratosis often present at birth but may appear later --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hyperkeratosis often present at birth but may appear later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:hypothyroidism is less severe in individuals with high dietary iodine intake --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hypothyroidism is less severe in individuals with high dietary iodine intake | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:in general, men have more severe disease than women --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in general, men have more severe disease than women | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:incidence 8/1,000 newborns --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 8/1,000 newborns | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:incidence of 1 in 10,000 to 1 in 20,000 --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 10,000 to 1 in 20,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:incomplete penetrance of optic atrophy --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance of optic atrophy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:increased susceptibility to malignant hyperthermia --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased susceptibility to malignant hyperthermia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:inflammatory bowel disease may develop in childhood or adolescence --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:inflammatory bowel disease may develop in childhood or adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:intrafamilial variability in severity of hypothyroidism --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial variability in severity of hypothyroidism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:itch, pain, and body malodor often --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:itch, pain, and body malodor often | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:joint laxity decreases with age --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:joint laxity decreases with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:l-dopa-induced dyskinesias --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:l-dopa-induced dyskinesias | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:later onset in females --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:left sided involvement occurs more frequently --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:left sided involvement occurs more frequently | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:lesions continue to grow until epiphyseal plate closure --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lesions continue to grow until epiphyseal plate closure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:lesions increase in size and number with age --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lesions increase in size and number with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:majority are stillborn or die in early neonatal period --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority are stillborn or die in early neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:majority of cases diagnosed at age 10-15 years --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases diagnosed at age 10-15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:many cases are asymptomatic --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many cases are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:many cases due to de novo mutation --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many cases due to de novo mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:maternal imprinting --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:maternal imprinting | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:may fade with age --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may fade with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:may regress --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may regress | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:mean age at onset 24 years (range 14 to 33 years) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 24 years (range 14 to 33 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:mean age of diagnosis of renal cell carcinoma is 46 years --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of diagnosis of renal cell carcinoma is 46 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:mean age of onset 35-40 years --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 35-40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:median age of onset of pigmentation - 8 years (range 1-15 years) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age of onset of pigmentation - 8 years (range 1-15 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:median survival is > 50 years --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median survival is > 50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:mesomelia becomes more evident with age --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mesomelia becomes more evident with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:metabolic encephalomyopathic crises often triggered by infection --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:metabolic encephalomyopathic crises often triggered by infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:patients may die in infancy or childhood due to respiratory failure --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may die in infancy or childhood due to respiratory failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:precipitated by fever --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitated by fever | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:prelingual onset --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prelingual onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:recurrent episodes of liver failure during intercurrent infections --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent episodes of liver failure during intercurrent infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:sexual infantilism --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sexual infantilism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:three unrelated patients have been reported (last curated december 2015) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 létale --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=létale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 rétinite pigmentaire --- r_associated #0: 28 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=28 en:(3) adult nonnephropathic (219750) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:(3) adult nonnephropathic (219750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:age at onset from 3 to 51 years (mean 19.2 years) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset from 3 to 51 years (mean 19.2 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:all features are unilateral --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all features are unilateral | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:allelic disorder to benign hereditary chorea (118700), which is less severe --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to benign hereditary chorea (118700), which is less severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:approximately 70-80% of cases are de novo and sporadic --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 70-80% of cases are de novo and sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:approximately half of the mutations are de novo --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately half of the mutations are de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:attacks more common in women --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks more common in women | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:autosomal recessive form (277720) has also been described --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive form (277720) has also been described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:average disease duration of 7 years --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average disease duration of 7 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:based on report of 4 patients from 1 family (last curated july 2015) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 4 patients from 1 family (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:carrier females show no phenotypic abnormalities, but may have learning difficulties --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:classic severe form shows onset at 2 to 3 months of age --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:classic severe form shows onset at 2 to 3 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:condition is experienced by patients as harmless and is often discovered incidentally --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:condition is experienced by patients as harmless and is often discovered incidentally | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:death due to respiratory insufficiency within minutes to hours after birth --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death due to respiratory insufficiency within minutes to hours after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:death in fourth to fifth decade --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in fourth to fifth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:death may occur in infancy --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death may occur in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:death often in the teenage years --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often in the teenage years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:earlier onset is associated with more rapid progression --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:earlier onset is associated with more rapid progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:estimated frequency 1/2000-1/4000 individuals --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated frequency 1/2000-1/4000 individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:family a had a severe multisystem disorder resulting in death before age 2 years --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:family a had a severe multisystem disorder resulting in death before age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:female carriers may show intermittent hematuria --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may show intermittent hematuria | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:females often show milder phenotype with later onset of cardiac symptoms --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:females often show milder phenotype with later onset of cardiac symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:four patients from 3 families have been reported (last curated march 2016) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients from 3 families have been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:fractures and dental caries and premature secondary tooth loss occur in adulthood --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:fractures decrease after puberty but increase after menopause --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fractures decrease after puberty but increase after menopause | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:gonadal and somatic mosaicism reported in parent --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gonadal and somatic mosaicism reported in parent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:highly variable phenotype with respect to facial dysmorphism and neurologic features --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:hypersensitivity to ionizing radiation --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hypersensitivity to ionizing radiation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:hyperthermia in early childhood --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hyperthermia in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:incidence of 1 in 100,000 births --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 100,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:incidence of 1 in 39,000 --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 39,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:increased male to female ratio (7.5:1) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased male to female ratio (7.5:1) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:inflammatory arthritis may develop in 30% of patients --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:inflammatory arthritis may develop in 30% of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:initially normal rod responses may become significantly reduced at older age --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:initially normal rod responses may become significantly reduced at older age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:insidious onset --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:insidious onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:intracellular accumulation of material can occur in neuronal and nonneuronal cells --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:juvenile onset 4 years to puberty --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:juvenile onset 4 years to puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:leg pain during childhood --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:leg pain during childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:lethal in utero or perinatal lethal --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lethal in utero or perinatal lethal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:majority of cases sporadic --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:majority of patients are ambulatory --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of patients are ambulatory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:majority of patients are stillborn or die before 5 months of age --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of patients are stillborn or die before 5 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:males are more severely affected --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males are more severely affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:many features are present only in an untreated patient --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many features are present only in an untreated patient | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:may be due to imprinting defect --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be due to imprinting defect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:may have seasonal variance in severity --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may have seasonal variance in severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:may result in sudden death --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may result in sudden death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:mean age at onset 33 years (range 20-60) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 33 years (range 20-60) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:mean age of onset in third decade --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset in third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:nine patients have been reported (last curated july 2015) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nine patients have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:one patient has been reported (last curated august 2015) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:phenotypic variation (may affect language expression, reception, and/or articulation) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic variation (may affect language expression, reception, and/or articulation) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:possible x-linked dominant inheritance --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible x-linked dominant inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:quinidine therapy may be effective --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:quinidine therapy may be effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:some patients have onset in second decade of life --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have onset in second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:some patients may not present until adulthood --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may not present until adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:some patients with advanced loss of vision have normal eog --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients with advanced loss of vision have normal eog | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:subset of patients have leigh syndrome (256000) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subset of patients have leigh syndrome (256000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:sudden death within first days of life --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden death within first days of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:twenty-five percent of affected babies are stillborn --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:twenty-five percent of affected babies are stillborn | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:variable age at onset, first to second decades --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, first to second decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:variable age of onset (range 4 months to 45 years) --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (range 4 months to 45 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 malformation --- r_associated #0: 27 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=27 en:abnormal sensitivity to therapeutic radiation --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:abnormal sensitivity to therapeutic radiation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:affected individuals may have more than 1 cardiac structural defect, or none at all --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals may have more than 1 cardiac structural defect, or none at all | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:age at diagnosis 24 +/- 18 years for dominant disease --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at diagnosis 24 +/- 18 years for dominant disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:approximately 50% of patients have situs inversus --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 50% of patients have situs inversus | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:cardiac examination is usually unremarkable --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cardiac examination is usually unremarkable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:childhood or adolescent onset (usually less than 25 years) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood or adolescent onset (usually less than 25 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:coloboma is associated with larger microdeletion (490kb) of 11q13 --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:deafness tends to occur before other neurologic signs, except in patients with very early onset --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:death before age 40 --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death before age 40 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:death in utero or in early infancy is common --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in utero or in early infancy is common | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:dramatic improvement with proper treatment --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dramatic improvement with proper treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:early death (in some patients) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:features are variable --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:frequency and severity of symptoms do not worsen with age --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequency and severity of symptoms do not worsen with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:high frequency hearing loss progresses to include all frequencies --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency hearing loss progresses to include all frequencies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:high risk of recurrence after surgery --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high risk of recurrence after surgery | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:incidence of 1 in 1.5 million births --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 1.5 million births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:increased risk of early death --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased risk of early death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:increased susceptibility to multiple carcinomas --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased susceptibility to multiple carcinomas | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:inheritance pattern is unclear --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:inheritance pattern is unclear | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:late-adult onset (fifth to sixth decade) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late-adult onset (fifth to sixth decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:later onset has been reported --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:later onset of neurologic features --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset of neurologic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:length of attack, 3 to 7 days --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:length of attack, 3 to 7 days | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:lesions provoked by friction, sun exposure, heat, and injury --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lesions provoked by friction, sun exposure, heat, and injury | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:lethal in males --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lethal in males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:life-threatening infections --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:life-threatening infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:limb malformations are variable --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limb malformations are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:loss of ambulation --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:loss of ambulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:majority of cases (95%) are sporadic --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases (95%) are sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:majority of cases are sporadic, often in tall, thin men --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases are sporadic, often in tall, thin men | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:male patients have more severe disease than female patients --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male patients have more severe disease than female patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:males more affected than females (2 to 2.5:1) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males more affected than females (2 to 2.5:1) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:many patients lose independent mobility after 25 years --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many patients lose independent mobility after 25 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:mean age at onset of cerebellar ataxia is 52.8 years --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset of cerebellar ataxia is 52.8 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:mean age at onset of proximal muscle weakness, 31 years --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset of proximal muscle weakness, 31 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:mean age of onset 30 years (range 25-42) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 30 years (range 25-42) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:onset of lymphedema around puberty --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of lymphedema around puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:onset of night blindness varies among patients from early childhood to mid thirties --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of night blindness varies among patients from early childhood to mid thirties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:onset of overgrowth in the first year of life (in most cases) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of overgrowth in the first year of life (in most cases) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:pigmentation not always butterfly-shaped --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pigmentation not always butterfly-shaped | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:toe-walking gait --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:toe-walking gait | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:tumor suppressor gene --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tumor suppressor gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 maladie opportuniste --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=maladie opportuniste | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 rétinite pigmentaire liée à la rhodopsine --- r_associated #0: 26 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire liée à la rhodopsine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=26 rétinite pigmentaire et retard mental --- r_associated #0: 25 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire et retard mental | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=25 rétinite pigmentaire liée au sexe récessive 3 --- r_associated #0: 25 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire liée au sexe récessive 3 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=25 rétinite pigmentaire liée à la périphérine --- r_associated #0: 25 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire liée à la périphérine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=25 rétinite pigmentaire liée à la périphérine (pro219leu) --- r_associated #0: 25 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire liée à la périphérine (pro219leu) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=25 rétinite pigmentaire, surdité, retard mental, et hypogonadisme --- r_associated #0: 23 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=23 en:developmental anomaly --- r_associated #0: 21 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:developmental anomaly | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=21 en:polyhydramnion --- r_associated #0: 21 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:polyhydramnion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=21 une anomalie congénitale --- r_associated #0: 21 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=une anomalie congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=21 Malformation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Malformation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 Malformation congénitale --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Malformation congénitale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:'second wind' phenomenon --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:'second wind' phenomenon | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:'shoulder' pattern of temperature-dependent potassium flux (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:'variant' form of x-linked cgd retains residual cytochrome b(-245) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:'variant' form of x-linked cgd retains residual cytochrome b(-245) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:(1) classic severe (onset of symptoms 4 to 7 days of age) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:(1) classic severe (onset of symptoms 4 to 7 days of age) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:(1) infantile nephropathic (219800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:(1) infantile nephropathic (219800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:(2) intermittent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:(2) intermittent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:(2) juvenile or adolescent nephropathic (219900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:(2) juvenile or adolescent nephropathic (219900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:(3) intermediate --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:(3) intermediate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:(4) thiamine-responsive form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:(4) thiamine-responsive form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:(5) dihydrolipoyl dehydrogenase (e3)-deficient --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:(5) dihydrolipoyl dehydrogenase (e3)-deficient | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:1 in 17,000 in china --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:1 in 17,000 in china | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:1 in 19,000 in japan --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:1 in 19,000 in japan | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:1 in 50,000 in korea --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:1 in 50,000 in korea | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:1 patient reported (last curated may 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:1 patient reported (last curated may 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:10% due to paternal deletion --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:10% due to paternal deletion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:12% due to epimutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:12% due to epimutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:13% of cases secondary to familial translocation (often maternally derived) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:13% of cases secondary to familial translocation (often maternally derived) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:14 patients in 8 recessive kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:14 patients in 8 recessive kindreds reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:14% of patients survive with polyhydramnios --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:14% of patients survive with polyhydramnios | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:15 patients from 5 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:15 patients from 5 kindreds reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:15% cases are familial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:15% cases are familial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:2 patients described --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:2 patients described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:2% due to paternal uniparental disomy of 15q11.2-q13 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:2% due to paternal uniparental disomy of 15q11.2-q13 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:2-3% due to imprinting defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:2-3% due to imprinting defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:20-40% patients are asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:20-40% patients are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:21 patients from 17 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:21 patients from 17 kindreds reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:21% of hereditary wilms tumor are bilateral --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:21% of hereditary wilms tumor are bilateral | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:23 patients from 2 kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:23 patients from 2 kindreds reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:25% due to mutations in ube3a (601623) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:25% due to mutations in ube3a (601623) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:2:1 female preponderance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:2:1 female preponderance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:3 reported cases, 1 pedigree of affected sibs, neither parent affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:3 reported cases, 1 pedigree of affected sibs, neither parent affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:35% of patients have facial dysmorphism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:35% of patients have facial dysmorphism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:40 patients in 16 dominant kindreds reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:40 patients in 16 dominant kindreds reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:40% patients have associated abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:40% patients have associated abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:46,xx carriers are unaffected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:46,xx carriers are unaffected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:46,xy carriers are unaffected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:46,xy carriers are unaffected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:5-10% of all wilms tumor are bilateral --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:5-10% of all wilms tumor are bilateral | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:50% of cases are de novo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:50% of cases are de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:50% of females have learning disability or mild mental retardation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:50% of females have learning disability or mild mental retardation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:7 unrelated patients have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:7 unrelated patients have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:70% due to de novo maternal deletion of 15q11.2-q13 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:70% due to de novo maternal deletion of 15q11.2-q13 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:75% of affected individuals are female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:75% of affected individuals are female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:78% due to chromosome 14 maternal uniparental disomy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:78% due to chromosome 14 maternal uniparental disomy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:80% cases new mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:80% cases new mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:85-90% with manifestations in first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:85-90% with manifestations in first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:87% patients are female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:87% patients are female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:94% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:94% develop hypertension at 18 years of age or less | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:95% of cases are sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:95% of cases are sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:98% of finnish cases due to one mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:98% of finnish cases due to one mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:99+% of the mutations are fgfr3, g380r (134934.0001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:99+% of the mutations are fgfr3, g380r (134934.0001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a minority of patients have onset after age 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a minority of patients have onset after age 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a mutation in the cxorf5 gene has been reported in 1 affected family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a mutation in the cxorf5 gene has been reported in 1 affected family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a nonspecific marker of somatic mosaicism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a nonspecific marker of somatic mosaicism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a pair of monozygotic twins have been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a pair of monozygotic twins have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a second family had mild intellectual disability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a second family had mild intellectual disability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a second patient died at age 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a second patient died at age 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a severe infantile variant has been rarely reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a severe infantile variant has been rarely reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a subgroup of patients with sponastrime dysplasia have severe mental retardation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a subgroup of patients with sponastrime dysplasia have severe mental retardation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a subset of patients are responsive to vitamin b12 therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a subset of patients are responsive to vitamin b12 therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a subset of patients have a 'visual variant' --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a subset of patients have a 'visual variant' | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a subset of patients have heterozygous mutations, which may predispose to disease development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a subset of patients have heterozygous mutations, which may predispose to disease development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a subset of patients improve with thiamine --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a subset of patients improve with thiamine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a subset of patients may have congenital abnormalities of the ocular anterior segment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a subset of patients may have congenital abnormalities of the ocular anterior segment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:a wnt3 mutation has been identified in 1 affected family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:a wnt3 mutation has been identified in 1 affected family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:abnormal morphogenesis of first and second branchial arches --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:abnormal morphogenesis of first and second branchial arches | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:abnormal transferrin pattern tends to improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:abnormal transferrin pattern tends to improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 10% of patients have a severe early onset in the first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 10% of patients have a severe early onset in the first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 15% of female carriers develop renal insufficiency in the second or third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 15% of female carriers develop renal insufficiency in the second or third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 25% of cases due to new mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 25% of cases due to new mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 5% of patients have a history of febrile seizures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 5% of patients have a history of febrile seizures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 50% of mutation carriers are asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 50% of mutation carriers are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 50% of patients become wheelchair-bound at an average age of 37 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 50% of patients become wheelchair-bound at an average age of 37 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 50% of patients have intellectual disability and/or hydrocephalus --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 50% of patients have intellectual disability and/or hydrocephalus | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about 8% of female mutation carriers develop dilated cardiomyopathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about 8% of female mutation carriers develop dilated cardiomyopathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about a dozen patients have been reported (as of march 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about a dozen patients have been reported (as of march 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about half of individuals are asymptomatic and identified by newborn screening programs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about half of individuals are asymptomatic and identified by newborn screening programs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about half of patients become wheelchair bound after long duration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about half of patients become wheelchair bound after long duration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about half of patients report vestibular symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about half of patients report vestibular symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:absence of both inner and outer dynein arms of cilia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:absence of both inner and outer dynein arms of cilia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:absence of premature birth, low birthweight, and exposure to oxygen --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:absence of premature birth, low birthweight, and exposure to oxygen | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:absence seizures usually remit by puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:absence seizures usually remit by puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acanthosis nigricans fades during adolescence and reappears in pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acanthosis nigricans fades during adolescence and reappears in pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:accounts for 1-2% of lymphomas in adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:accounts for 1-2% of lymphomas in adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:accounts for 30-50% of lymphomas in children --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:accounts for 30-50% of lymphomas in children | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:accounts for 5-15% of childhood epilepsies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:accounts for 5-15% of childhood epilepsies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:accounts for 70% of all usher syndrome patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:accounts for 70% of all usher syndrome patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:accounts for <2% of patients with alzheimer's disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:accounts for <2% of patients with alzheimer's disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:accounts for approximately 5% of the epilepsies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:accounts for approximately 5% of the epilepsies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acetazolamide is often effective --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acetazolamide is often effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acetazolamide may benefit attacks of vertigo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acetazolamide may benefit attacks of vertigo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acquired autoimmune disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acquired autoimmune disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acquired disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acquired disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acquired protein c deficiency seen in liver disease, dic, and following surgery --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acquired protein c deficiency seen in liver disease, dic, and following surgery | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acquired sporadic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acquired sporadic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acral form of skin peeling limited to hands and feet (609796) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acral form of skin peeling limited to hands and feet (609796) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acral hemorrhagic variant --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acral hemorrhagic variant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acute attacks lasting 24-48 hours --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acute attacks lasting 24-48 hours | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acute attacks rarely occur before puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acute attacks rarely occur before puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acute encephalopathic episodes may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acute encephalopathic episodes may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acute episodes decrease with age and disappear --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acute episodes decrease with age and disappear | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:acute neurologic deterioration after viral illness has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:acute neurologic deterioration after viral illness has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adams-stokes syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adams-stokes syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:additional developmental abnormalities may be seen in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:additional developmental abnormalities may be seen in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:additional features are variably present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:additional features are variably present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adolescent or adult onset associated with neuropsychiatric symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adolescent or adult onset associated with neuropsychiatric symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult form is asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult form is asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult form onset has after 20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult form onset has after 20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (18 to 60 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (18 to 60 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (20 to 40 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (20 to 40 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (25-45 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (25-45 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (27 to 48 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (27 to 48 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (37 to 57 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (37 to 57 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (40 to 60 years old) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (40 to 60 years old) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (45 to 76 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (45 to 76 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (after age 35 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (after age 35 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (before 50 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (before 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (mean 27 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (mean 27 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (mean 30 years, range 10-65 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (mean 30 years, range 10-65 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (mean 30 years, range 5-60 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (mean 30 years, range 5-60 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (mean 60 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (mean 60 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (mean age 37 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (mean age 37 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (mean of 30 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (mean of 30 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (mid-forties) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (mid-forties) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (range 12 to 59 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (range 12 to 59 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (range 14 to 70 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (range 14 to 70 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (range 15 to 53 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (range 15 to 53 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (range 19 to 48 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (range 19 to 48 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (range 28 to 55 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (range 28 to 55 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (range 30 to 50 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (range 30 to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (range 34 to 66 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (range 34 to 66 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (range 40 to 60 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (range 40 to 60 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (range 45 to 70 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (range 45 to 70 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (second to sixth decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (second to sixth decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (sixth decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (sixth decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (third decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (third decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset (thirties to forties) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset (thirties to forties) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset - 100-1,000 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset - 100-1,000 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset after puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset after puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset form usually presents with psychiatric manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset form usually presents with psychiatric manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset has been rarely reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset has been rarely reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset has been reported (age 50 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset has been reported (age 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset may also occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset may also occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset of gait abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset of gait abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset of muscle symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset of muscle symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset of neurologic symptoms (range 30 to 46 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset of neurologic symptoms (range 30 to 46 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset of symptoms has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset of symptoms has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset rarely reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset rarely reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult onset, usually 30's to 40's, but up to early 60's --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult onset, usually 30's to 40's, but up to early 60's | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult-onset (range early twenties to forties) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult-onset (range early twenties to forties) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult-onset in third to fourth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult-onset in third to fourth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adult-onset is referred to as small fiber neuropathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adult-onset is referred to as small fiber neuropathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adults may be asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adults may be asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:adults may lose ability to walk --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:adults may lose ability to walk | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected females are infertile --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected females are infertile | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected females have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected females have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected females may have increased spontaneous abortions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected females may have increased spontaneous abortions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected fetuses frequently undergo spontaneous abortion --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected fetuses frequently undergo spontaneous abortion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals are highly prone to burn-related injuries --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals are highly prone to burn-related injuries | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals are negative for dermatographism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals are negative for dermatographism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals die soon after birth due to respiratory failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals die soon after birth due to respiratory failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals have amnesia for events --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals have amnesia for events | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals may have biallelic or heterozygous mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals may have biallelic or heterozygous mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals may have learning or behavioral problems during the period when seizures occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals may have learning or behavioral problems during the period when seizures occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals remain ambulatory --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals remain ambulatory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected individuals remain ambulatory in old age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected individuals remain ambulatory in old age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected infants appear normal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected infants appear normal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected infants appear normal at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected infants appear normal at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected infants die in neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected infants die in neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected infants often die in utero or in the postnatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected infants often die in utero or in the postnatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected males are all result of new mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected males are all result of new mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected males are infertile, whereas affected females have recurrent pregnancy loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected males are infertile, whereas affected females have recurrent pregnancy loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected males are somatic mosaic for mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected males are somatic mosaic for mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected males have normal pubertal development and are fertile --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected males have normal pubertal development and are fertile | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected males have onset of poor vision before the age of 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected males have onset of poor vision before the age of 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected males have serotonin-related disorders such as migraine headaches and diabetes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected males have serotonin-related disorders such as migraine headaches and diabetes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected males show onset of hematuria in first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected males show onset of hematuria in first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected males who survive are secondary to new mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected males who survive are secondary to new mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected patients have various combinations of the main clinical features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected patients have various combinations of the main clinical features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affected, mild - 50-150 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affected, mild - 50-150 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affects 1 in 250,000 to 1 million people worldwide --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affects 1 in 250,000 to 1 million people worldwide | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affects 1 to 3% of the population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affects 1 to 3% of the population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affects between 1 in 200 to 1 in 400 individuals of northern european descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affects between 1 in 200 to 1 in 400 individuals of northern european descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affects up to 10% of the population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affects up to 10% of the population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:affects up to 10% of women in their reproductive years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:affects up to 10% of women in their reproductive years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at death:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at death:time:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at diagnosis 2-4 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at diagnosis 2-4 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at diagnosis 26 +/- 14 years for recessive disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at diagnosis 26 +/- 14 years for recessive disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at diagnosis 28 +/- 18 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at diagnosis 28 +/- 18 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at diagnosis 36 +/- 20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at diagnosis 36 +/- 20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at diagnosis 9 +/- 6 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at diagnosis 9 +/- 6 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at diagnosis of cataract may range up to 40 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at diagnosis of cataract may range up to 40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at first pregnancy:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at first pregnancy:time:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at menarche:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at menarche:time:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at menopause:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at menopause:time:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset 15 to 25 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset 15 to 25 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset 15 to 33 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset 15 to 33 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset 3 to 23 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset 3 to 23 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset can range from infancy to childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset can range from infancy to childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset in females ranges from childhood to the fourth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset in females ranges from childhood to the fourth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset in males ranges from 3 to 7 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset in males ranges from 3 to 7 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset most often in childhood (first decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset most often in childhood (first decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset ranges from 16 years to 65 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset ranges from 16 years to 65 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset ranges from 50 to 70 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset ranges from 50 to 70 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset ranges from childhood to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset ranges from childhood to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset ranges from early childhood to after age 50 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset ranges from early childhood to after age 50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset ranges from first to sixth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset ranges from first to sixth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age at onset ranges from neonatal to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age at onset ranges from neonatal to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset - birth to 15 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset - birth to 15 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 1 to 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 1 to 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 17 to 68 years (mean 39) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 17 to 68 years (mean 39) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 2-8 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 2-8 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 20-65 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 20-65 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 23-59 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 23-59 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 28 to 70 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 28 to 70 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 30 to 60 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 30 to 60 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 36 to 55 years (mean 47) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 36 to 55 years (mean 47) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 43-64 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 43-64 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 5 to 19 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 5 to 19 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 5 to 22 years (mean 6.9) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 5 to 22 years (mean 6.9) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 5 to 40 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 5 to 40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset 6-12 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset 6-12 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset between 20 to 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset between 20 to 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset between 6 and 45 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset between 6 and 45 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset between 6 to 10 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset between 6 to 10 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset from 10 to 40 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset from 10 to 40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset from 18 to 45 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset from 18 to 45 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset from third to sixth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset from third to sixth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset of upper limb involvement 10-43 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset of upper limb involvement 10-43 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset ranges from infancy to young adulthood (6 months-19 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset ranges from infancy to young adulthood (6 months-19 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset ranges from neonate to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset ranges from neonate to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset varies (7 to 28 years of age) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset varies (7 to 28 years of age) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset varies between 18 years and 53 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset varies between 18 years and 53 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset varies from 5-32 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset varies from 5-32 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset within the first years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset within the first years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age of onset, 6-20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age of onset, 6-20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age on onset - adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age on onset - adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age-dependent penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age-dependent penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age-related clinical course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age-related clinical course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age:time:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age:time:pt:^egg donor:qn --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age:time:pt:^egg donor:qn | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age:time:pt:^patient:qn:calculated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age:time:pt:^patient:qn:calculated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age:time:pt:^patient:qn:estimated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age:time:pt:^patient:qn:estimated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:age:time:pt:^patient:qn:reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:age:time:pt:^patient:qn:reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:aggravated by physical activity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:aggravated by physical activity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:aggressive malignancies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:aggressive malignancies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:alcohol may alleviate symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:alcohol may alleviate symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all affected individuals have been stillborn or died in the neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all affected individuals have been stillborn or died in the neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all cases are de novo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all cases are de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all cases due to de novo mutation (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all cases due to de novo mutation (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all cases from a remote village, sabinas, in northern mexico --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all cases from a remote village, sabinas, in northern mexico | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all cases have been sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all cases have been sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all cases have been stillborn or immediate neonatal death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all cases have been stillborn or immediate neonatal death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all cases occur in a jewish religious isolate originally from cochin, india --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all cases occur in a jewish religious isolate originally from cochin, india | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all cases occur in old order amish, lancaster county, pennsylvania --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all cases occur in old order amish, lancaster county, pennsylvania | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all cases presumed de novo mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all cases presumed de novo mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all de novo mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all de novo mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all hearing impaired females who had been pregnant reported acute hearing loss and tinnitus immediately after parturition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all patients have duplication of at least the crebbp gene (600140) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all patients have duplication of at least the crebbp gene (600140) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all patients have severe hearing loss 10 to 15 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all patients have severe hearing loss 10 to 15 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all reported cases have de novo mutations (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all reported cases have de novo mutations (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all reported cases have occurred de novo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all reported cases have occurred de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all reported cases have occurred sporadically --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all reported cases have occurred sporadically | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all reported cases have resulted from de novo mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all reported cases have resulted from de novo mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all reported cases result from de novo mutation (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all reported cases result from de novo mutation (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:all reported patients are female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:all reported patients are female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder is brugada syndrome (601144) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder is brugada syndrome (601144) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder is long qt syndrome-3 (lqt3, 603830) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder is long qt syndrome-3 (lqt3, 603830) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to adult polyglucosan body disease (263570) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to adult polyglucosan body disease (263570) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to androgen insensitivity syndrome (ais, 300068) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to androgen insensitivity syndrome (ais, 300068) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to autosomal dominant form (129490) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to autosomal dominant form (129490) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to autosomal dominant optic atrophy and cataract (165300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to autosomal dominant spg13 (605280) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to autosomal dominant spg13 (605280) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to autosomal recessive form (224900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to autosomal recessive form (224900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to brachydactyly type b (113000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to brachydactyly type b (113000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to charcot-marie-tooth disease type 1a (118220) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to charcot-marie-tooth disease type 1a (118220) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to child syndrome (308050) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to child syndrome (308050) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to cln8 (600143) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to cln8 (600143) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to cmt4a (214400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to cmt4a (214400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to corticosterone methyloxidase type i deficiency (203400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to duane-radial ray syndrome (drrs, 607323) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to duane-radial ray syndrome (drrs, 607323) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to glut1 deficiency syndrome 1 (606777) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to glut1 deficiency syndrome 1 (606777) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to ifap syndrome (308205) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to ifap syndrome (308205) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to infantile neuroaxonal dystrophy (256600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to infantile neuroaxonal dystrophy (256600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to juvenile nephronophthisis-1 (256100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to juvenile nephronophthisis-1 (256100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to juvenile-onset amyotrophic lateral sclerosis (als2, 205100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to limb-mammary syndrome (lms, 603543) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to limb-mammary syndrome (lms, 603543) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to long qt syndrome-1 (lqt1, 192500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to long qt syndrome-1 (lqt1, 192500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to margarita island type of ectodermal dysplasia (225060) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to margarita island type of ectodermal dysplasia (225060) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to nf1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to nf1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to nieman-pick disease type b (607616) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to nieman-pick disease type b (607616) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to niemann-pick disease type a (257200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to niemann-pick disease type a (257200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to northern epilepsy (610003) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to northern epilepsy (610003) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to opitz-kaveggia syndrome (305450) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to opitz-kaveggia syndrome (305450) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to paramyotonia congenita (168300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to paramyotonia congenita (168300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to parkinson disease-1 (park1, 168601) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to parkinson disease-1 (park1, 168601) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to primary erythermalgia (133020) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to primary erythermalgia (133020) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to rett syndrome (312750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to rett syndrome (312750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to rippling muscle disease (rmd, 606072) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to rippling muscle disease (rmd, 606072) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to schindler disease (609241) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to schindler disease (609241) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to spastic paraplegia-3 (spg3, 182600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to spastic paraplegia-3 (spg3, 182600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to spinal muscular atrophy type i (253300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to spinal muscular atrophy type i (253300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to stickler syndrome 3 (184840) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to stickler syndrome 3 (184840) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to the ivic syndrome (147750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to the ivic syndrome (147750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to the zlotogora-ogur syndrome (225000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to the zlotogora-ogur syndrome (225000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to type iv glycogen storage disease (232500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to type iv glycogen storage disease (232500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to usher syndrome type 1f (602083) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to usher syndrome type 1f (602083) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorders with clinical overlap include dss and cmt1b (118200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorders with clinical overlap include dss and cmt1b (118200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205). --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205). | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, 145900), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and cmt with deafness (118300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, 145900), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and cmt with deafness (118300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and the lymphedema-distichiasis syndrome (153400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to acrocapitofemoral dysplasia (607778) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to acrocapitofemoral dysplasia (607778) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to acrokeratosis verruciformis (101900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to acrokeratosis verruciformis (101900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to aicardi-goutieres syndrome (225750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to aicardi-goutieres syndrome (225750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to anterior segment mesenchymal dysgenesis (107250) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to anterior segment mesenchymal dysgenesis (107250) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to autosomal recessive pxe (264800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to autosomal recessive pxe (264800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to bardet-biedl syndrome 6 (209900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to bardet-biedl syndrome 6 (209900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to birt-hogg-dube syndrome (135150) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to birt-hogg-dube syndrome (135150) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to brachydactyly, type a1 (112500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to brachydactyly, type a1 (112500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to brachydactyly, type a2 (112600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to brachydactyly, type a2 (112600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to cartilage-hair hypoplasia (250250) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to cartilage-hair hypoplasia (250250) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to cowden disease (158350), which has a later age at onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to cowden disease (158350), which has a later age at onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to craniometaphyseal dysplasia (123000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to craniometaphyseal dysplasia (123000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to deafness, autosomal recessive 12 (601386) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to deafness, autosomal recessive 12 (601386) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to deafness, autosomal recessive 23 (609533) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to deafness, autosomal recessive 23 (609533) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to deafness, neurosensory, autosomal recessive 18 (602092) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to dentin dysplasia, type 2 (125420) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to dentin dysplasia, type 2 (125420) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to dentinogenesis imperfecta 1 (125490) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to dentinogenesis imperfecta 1 (125490) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to dyggve-melchior-clausen disease (223800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to dyggve-melchior-clausen disease (223800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to early-onset familial alzheimer disease (ad1, 104300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to early-onset familial alzheimer disease (ad1, 104300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to ellis-van creveld syndrome (225500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to ellis-van creveld syndrome (225500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to enhanced s-cone syndrome (268100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to enhanced s-cone syndrome (268100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to grebe syndrome (200700), du pan syndrome (228900), and acromesomelic dysplasia, hunter thompson type (201250) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to groenouw type 1 corneal dystrophy (121900), thiel-behnke corneal dystrophy (602082), lattice type 1 corneal dystrophy (122200), lattice type iiia corneal dystrophy (608471), and reis-bucklers type corneal dystrophy (608470) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to hand osteoarthritis (607850) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to hand osteoarthritis (607850) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to hawkinsinuria (140350) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to hawkinsinuria (140350) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to infantile sialic acid storage disorder (269920) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to infantile sialic acid storage disorder (269920) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to kenny-caffey syndrome type 1 (244460) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to kenny-caffey syndrome type 1 (244460) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to leopard syndrome (151100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to leopard syndrome (151100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to marshall syndrome (154780) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to marshall syndrome (154780) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to mevalonic aciduria (610377) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to mevalonic aciduria (610377) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to mucolipidosis ii (252500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to mucolipidosis ii (252500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to mucopolysaccharidosis ivb --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to mucopolysaccharidosis ivb | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to multiple pterygium syndrome, lethal type (253290) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to multiple pterygium syndrome, lethal type (253290) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to myosin storage myopathy (608358) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to myosin storage myopathy (608358) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to naxos disease (601214) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to naxos disease (601214) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to nephronophthisis 4 (606966) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to nephronophthisis 4 (606966) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to neurofibromatosis-1 (nf1, 162200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to neurofibromatosis-1 (nf1, 162200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to noonan syndrome (163950) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to noonan syndrome (163950) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to pachyonychia congenita jackson-lawler type (167210) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to pachyonychia congenita jackson-lawler type (167210) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to pendred syndrome, deafness with goiter (274600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to pendred syndrome, deafness with goiter (274600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to proximal symphalangism (185800), stapes ankylosis syndrome without symphalangism (184460), and tarsal-carpal coalition syndrome (186570) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to pseudoachondroplasia (177170) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to pseudoachondroplasia (177170) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to rett syndrome (312750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to rett syndrome (312750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to roberts syndrome (268300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to roberts syndrome (268300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to robinow syndrome, autosomal recessive (268310) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to robinow syndrome, autosomal recessive (268310) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to senior-loken syndrome 1 (266900) and joubert syndrome 4 (609583) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to senior-loken syndrome 4 (606996) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to senior-loken syndrome 4 (606996) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to several forms of autosomal recessive cmt (see 214400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to several forms of autosomal recessive cmt (see 214400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to sialuria, finnish type (604369) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to sialuria, finnish type (604369) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to stickler syndrome, type 3 (184840) and osmed (215150) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to trp1 (190350) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to trp1 (190350) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to tyrosinemia, type iii (276720) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to tyrosinemia, type iii (276720) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to usher syndrome, type id (601067) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to usher syndrome, type id (601067) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to waardenburg syndrome, type iia (193510) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to waardenburg syndrome, type iia (193510) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic with cone-rod dystrophy 10 (610283) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic with cone-rod dystrophy 10 (610283) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic with retinitis pigmentosa 35 (610282) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic with retinitis pigmentosa 35 (610282) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:allelic with smith-mccort dysplasia (607326) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:allelic with smith-mccort dysplasia (607326) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:almost all patients require total parenteral nutrition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:almost all patients require total parenteral nutrition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:alopecia may spontaneously regress, become chronic, or spread diffusely --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:alopecia may spontaneously regress, become chronic, or spread diffusely | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:alopecia usually occurs around puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:alopecia usually occurs around puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:alpha thalassemia-mental retardation syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:alpha thalassemia-mental retardation syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:alpha-l-iduronidase activity is <1% for all forms of mps1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:alpha-l-iduronidase activity is <1% for all forms of mps1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:also called 'heterozygous osmed' and 'autosomal dominant osmed' --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:also called 'heterozygous osmed' and 'autosomal dominant osmed' | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ambulation is preserved --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ambulation is preserved | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ambulation is usually maintained during adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ambulation is usually maintained during adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ambulation usually not achieved --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ambulation usually not achieved | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:amelioration with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:amelioration with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:an autosomal recessive form has been reported (269720) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:an autosomal recessive form has been reported (269720) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anemia does not respond to alpha-interferon treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anemia does not respond to alpha-interferon treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anemia is not responsive to pyridoxine supplementation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anemia is not responsive to pyridoxine supplementation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anemia is transfusion-dependent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anemia is transfusion-dependent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anemia may be responsive to iron chelation treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anemia may be responsive to iron chelation treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anemia may show favorable response to alpha-interferon treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anemia may show favorable response to alpha-interferon treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anemia may show onset in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anemia may show onset in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anemia, diabetes, and deafness often show onset at different ages --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anemia, diabetes, and deafness often show onset at different ages | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:antenatal onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:antenatal onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:antibodies can develop after pregnancy or transfusion --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:antibodies can develop after pregnancy or transfusion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:apparent at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:apparent at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:apparent in newborn at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:apparent in newborn at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:appear normal at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:appear normal at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 10% of als cases are familial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 10% of als cases are familial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 12 patients have been reported (as of march 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 12 patients have been reported (as of march 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 25% have a severe course and die of respiratory failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 25% have a severe course and die of respiratory failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 35% of patients die during the first 2 years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 35% of patients die during the first 2 years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 40% of patients die within newborn period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 40% of patients die within newborn period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 50db loss in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 50db loss in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 60% of brrs patients have pten mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 60% of brrs patients have pten mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 60% of cases are due to somatic mutations and are unilateral --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 60% of cases are due to somatic mutations and are unilateral | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 80% of cs patients have pten mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 80% of cs patients have pten mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately half of cases are due to de novo deletions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately half of cases are due to de novo deletions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately half of cases are due to unbalanced rearrangements, which may be familial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately half of cases are due to unbalanced rearrangements, which may be familial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately half of patients need ambulatory support after the fifth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately half of patients need ambulatory support after the fifth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:approximately one-third of patients become seizure-free with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:approximately one-third of patients become seizure-free with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:arrhythmias detected prenatally (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:arrhythmias detected prenatally (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:arteriovenous malformations can occur throughout the body --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:arteriovenous malformations can occur throughout the body | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:as of 2009, one family has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:as of 2009, one family has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:assisted ambulation or wheelchair-dependent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:assisted ambulation or wheelchair-dependent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated specifically with the gba d409h mutation (606463.0006) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated specifically with the gba d409h mutation (606463.0006) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with a balanced translocation t(12,22)(p11.2,q13.3) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with a balanced translocation t(12,22)(p11.2,q13.3) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with deletion at chromosome 2q37 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with deletion at chromosome 2q37 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with fragile x syndrome (300624) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with fragile x syndrome (300624) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with fragile x syndrome (309550) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with fragile x syndrome (309550) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with idiopathic generalized epilepsy (ige, 600669) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with idiopathic generalized epilepsy (ige, 600669) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with increased paternal age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with increased paternal age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with increasing age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with increasing age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with malignant hyperthermia (mhs, 145600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with malignant hyperthermia (mhs, 145600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with myoclonic epilepsy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with myoclonic epilepsy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583). | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with the tau (157140) h1 haplotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with the tau (157140) h1 haplotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with tuberous sclerosis (191100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with tuberous sclerosis (191100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:associated with untreated phenylketonuria (261600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:associated with untreated phenylketonuria (261600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:association between hla class ii alleles and presence of autoantibodies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:association between hla class ii alleles and presence of autoantibodies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:association of cardiac events with exercise --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:association of cardiac events with exercise | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:association with autoimmune diseases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:association with autoimmune diseases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations. | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8). --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8). | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:asymptomatic heterozygotes susceptible to lead toxicity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:asymptomatic heterozygotes susceptible to lead toxicity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:asymptomatic if papillary zone is spared --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:asymptomatic if papillary zone is spared | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:asymptomatic skin lesions begin on neck in third decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:asymptomatic skin lesions begin on neck in third decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:asymptomatic younger patients show characteristic basal ganglia calcifications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:asymptomatic younger patients show characteristic basal ganglia calcifications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:at birth, there is generalized red scaly skin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:at birth, there is generalized red scaly skin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ataxia becomes evident at the end of the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ataxia becomes evident at the end of the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ataxia is slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ataxia is slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attack frequency may occur several times per week to once per year --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attack frequency may occur several times per week to once per year | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attacks are not responsive to acetazolamide --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks are not responsive to acetazolamide | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attacks may present during or after sleep --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks may present during or after sleep | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attacks often drug-induced --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks often drug-induced | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attacks rarely occur before puberty (hcp) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks rarely occur before puberty (hcp) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attacks tend to decrease with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks tend to decrease with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attacks triggered by catabolic stress, such as fever or illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks triggered by catabolic stress, such as fever or illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:attacks typically last for minutes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:attacks typically last for minutes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:atypical affected males, 'cardiac variants' 301500.0005 exist --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:atypical affected males, 'cardiac variants' 301500.0005 exist | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:atypical hemolytic-uremic syndrome shows onset in first 12 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:atypical hemolytic-uremic syndrome shows onset in first 12 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:aura may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:aura may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autoimmune manifestations are present in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autoimmune manifestations are present in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autonomic dysfunction usually precedes obvious neurologic deterioration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autonomic dysfunction usually precedes obvious neurologic deterioration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autonomic symptoms occur with headaches --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autonomic symptoms occur with headaches | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal dominant and autosomal recessive forms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal dominant and autosomal recessive forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal dominant inheritance has been rarely reported (187800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal dominant inheritance has been rarely reported (187800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal dominant inheritance has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal dominant inheritance has been reported in a single family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal dominant inheritance has been reported in a single family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal dominant omodysplasia has also been described (164745) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal dominant omodysplasia has also been described (164745) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal dominant transmission has been rarely reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal dominant transmission has been rarely reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal dominant with complete penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal dominant with complete penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal dominant with incomplete penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal dominant with incomplete penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive and dominant pedigrees described --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive and dominant pedigrees described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive cases have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive cases have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive cases tend to have a more severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive cases tend to have a more severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive cytochrome b-negative cgd (233690) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive cytochrome b-negative cgd (233690) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive cytochrome b-positive cgd, type i --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive cytochrome b-positive cgd, type i | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive cytochrome b-positive cgd, type i (233700) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive cytochrome b-positive cgd, type i (233700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive cytochrome b-positive cgd, type ii --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive cytochrome b-positive cgd, type ii | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive cytochrome b-positive cgd, type ii (233710) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive cytochrome b-positive cgd, type ii (233710) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive form (240220) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive form (240220) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance (245600) has also been suggested --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance (245600) has also been suggested | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance can occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance can occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance has also been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance has also been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance has been described in 2 families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance has been described in 2 families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance has been reported (see 601253.0010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance has been reported (see 601253.0010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance has been reported in 1 case --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance has been reported in 1 case | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance has been reported in 1 family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance has been reported in 1 family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance has been reported in 1 family (as of april 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance has been suggested --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance has been suggested | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance in one family (see 603342.0010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance in one family (see 603342.0010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive inheritance with earlier onset has been suggested --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive inheritance with earlier onset has been suggested | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:autosomal recessive omodysplasia has also been described (258315) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:autosomal recessive omodysplasia has also been described (258315) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age at death is 37 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at death is 37 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age at onset 16.6 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at onset 16.6 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age at onset 18 years (range 15 to 25 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at onset 18 years (range 15 to 25 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age at onset 18.6 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at onset 18.6 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age at onset 19 years (range 5 to 38) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at onset 19 years (range 5 to 38) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age at onset 31 years (range 7 to 54) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at onset 31 years (range 7 to 54) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age at onset 38 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at onset 38 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age at onset 66 years although earlier onset may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at onset 66 years although earlier onset may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age at onset is 24 years (range 4 to 58 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age at onset is 24 years (range 4 to 58 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age of onset 13 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age of onset 13 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age of onset 15 years (range 4 to 40) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age of onset 15 years (range 4 to 40) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age of onset 57 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age of onset 57 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average age of onset 6 months (range birth - 2 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average age of onset 6 months (range birth - 2 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average duration of illness 8 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average duration of illness 8 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:average onset 6 months (range 3-9) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:average onset 6 months (range 3-9) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:axial skeleton most commonly affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:axial skeleton most commonly affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:basal cell neoplasms develop after second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:basal cell neoplasms develop after second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:basal metabolic rate index:arbitrary concentration:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 4-generation chinese family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 4-generation chinese family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 5-generation family (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 5-generation family (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 family (last curated september 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 family (last curated september 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 large swiss german kindred (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 large swiss german kindred (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 report of monozygotic twins (last curated may 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 report of monozygotic twins (last curated may 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 reported family (last curated december 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 reported family (last curated december 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 reported family with oca6 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 reported family with oca6 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 reported patient (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 reported patient (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 1 uruguayan family (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 1 uruguayan family (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 13 patients in one family (last curated november 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 13 patients in one family (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 cousins in a consanguineous family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 cousins in a consanguineous family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 men from 2 unrelated consanguineous iranian families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 men from 2 unrelated consanguineous iranian families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 patients with p4hb mutations (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 patients with p4hb mutations (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 reported patients (last curated january 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 reported patients (last curated january 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 reported patients, 1 male and 1 female (last curated august 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 reports of 3 patients (last curated september 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 reports of 3 patients (last curated september 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 siblings in 1 family (last curated september 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 siblings in 1 family (last curated september 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 siblings in a consanguineous family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 siblings in a consanguineous family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 2 unrelated chinese families (last curated july 2014). --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 2 unrelated chinese families (last curated july 2014). | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 3 patients from 2 families (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 3 patients from 2 families (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 4 patients in one family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 4 patients in one family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on a family from an endogamous jewish community of mosul, iraq (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on a report of 2 affected male cousins (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on a report of 2 affected male cousins (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on a report of 2 monozygotic twin girls (last curated october 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on a report of 2 monozygotic twin girls (last curated october 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on a report of 2 unrelated saudi patients (last curated september 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on a report of 2 unrelated saudi patients (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on a report of one dutch family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on a report of one dutch family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on description of 1 family (last curated april 2006) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on description of 1 family (last curated april 2006) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on detailed clinical description of 1 family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on detailed clinical description of 1 family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on four patients in a four generation family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on four patients in a four generation family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one 4-generation german family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one 4-generation german family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one 4-generation italian family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one 4-generation italian family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one consanguineous palestinian family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one consanguineous palestinian family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one finnish family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one finnish family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one italian family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one italian family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one large north american family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one large north american family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one pakistani family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one pakistani family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one patient (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one patient (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one report of 3 consanguineous pakistani families (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one report of 3 consanguineous pakistani families (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one report of 4 unrelated sporadic patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one report of 4 unrelated sporadic patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one report of a 4-generation family with 4 affected males and 6 affected females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one report of a 4-generation family with 4 affected males and 6 affected females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on one report of brother and sister --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on one report of brother and sister | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 3-generation family (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 3-generation family (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 consanguineous pakistani family (last curated may 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 consanguineous pakistani family (last curated may 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 consanguineous turkish family (last curated june 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 consanguineous turkish family (last curated june 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 family (last curated december 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 family (last curated december 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 family (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 family (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 family (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 family (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 family (last curated january 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 family (last curated january 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 family (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 family (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 family of german ancestry (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 family of german ancestry (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 family with 7 affected members --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 family with 7 affected members | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 japanese family (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 japanese family (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 large 6-generation family (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 large 6-generation family (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 large dutch pedigree (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 large dutch pedigree (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 saudi arabian family (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 saudi arabian family (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 affected brothers in 1 family (last curated october 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 affected brothers in 1 family (last curated october 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 affected sisters (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 affected sisters (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 consanguineous arab families (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 consanguineous arab families (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 consanguineous pakistani families (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 consanguineous pakistani families (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 families (last curated january 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 families (last curated january 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 probands (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 probands (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 siblings and 1 patient (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 siblings and 1 patient (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 sisters (last curated october 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 sisters (last curated october 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 turkish sisters (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 turkish sisters (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 unrelated girls (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 unrelated girls (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 unrelated japanese girls (last curated october 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 unrelated japanese girls (last curated october 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 unrelated patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 unrelated patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 unrelated patients (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 unrelated patients (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 2 unrelated patients (last curated may 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 2 unrelated patients (last curated may 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 3 patients from 2 families (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 3 patients from 2 families (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 3 unrelated children (last curated january 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 3 unrelated children (last curated january 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 3 unrelated patients (last curated january 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 3 unrelated patients (last curated january 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 4 unrelated patients (last curated january 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 4 unrelated patients (last curated january 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of 5 brothers of arab-moslem descent (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of a chinese father and son (last curated may 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of a chinese father and son (last curated may 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of a hispanic mother and son (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of a hispanic mother and son (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of one 5-generation family (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of one 5-generation family (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of one consanguineous kuwaiti family (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of one consanguineous kuwaiti family (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of one indian family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of one indian family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on report of one polish roma patient (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on report of one polish roma patient (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on reports of a consanguineous jordanian family and a tunisian family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on reports of one family and one patient (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on reports of one family and one patient (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on the report of 1 consanguineous arab family (last curated january 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on the report of 1 consanguineous arab family (last curated january 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on the report of 1 japanese family (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on the report of 1 japanese family (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on the report of one consanguineous pakistani family (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on the report of one consanguineous pakistani family (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:based on the report of one lebanese family (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:based on the report of one lebanese family (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:because fetal chrng (100730) exhibits phenotypic rescue --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:because fetal chrng (100730) exhibits phenotypic rescue | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:begins as focal dystonia, later becomes segmental or generalized --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:begins as focal dystonia, later becomes segmental or generalized | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:begins in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:begins in feet and legs (peroneal distribution) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:begins in hands or feet, later generalized --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:begins in hands or feet, later generalized | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:behavioral problems including stubbornness and rage --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:behavioral problems including stubbornness and rage | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:benign condition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:benign condition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:benign trait --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:benign trait | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:benign, asymptomatic defect --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:benign, asymptomatic defect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:between 2 and 7% of children will develop afebrile seizure disorders later in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:between 2 and 7% of children will develop afebrile seizure disorders later in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bilateral involvement in 10% of cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bilateral involvement in 10% of cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bimodal age of onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bimodal age of onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:birth date:time stamp -- date and time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:birth date:time stamp -- date and time:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:birth incidence approximately 5.1 per million live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:birth incidence approximately 5.1 per million live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:birth rate of 7.6 per 1,000,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:birth rate of 7.6 per 1,000,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bleeding after trauma or surgery --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bleeding after trauma or surgery | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bleeding episodes occur early in life and may disappear with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bleeding episodes occur early in life and may disappear with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:blindness episodes are not associated with fhm episodes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:blindness episodes are not associated with fhm episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:blistering and erosions tend to occur on extensor surfaces or over bony prominences --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:blistering and erosions tend to occur on extensor surfaces or over bony prominences | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:blistering becomes confined to the palms and soles with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:blistering becomes confined to the palms and soles with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:blistering frequency may decrease with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:blistering frequency may decrease with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:blistering tends to improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:blistering tends to improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:blood glucose monitor with integrated lancing/blood sample --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:blood glucose monitor with integrated lancing/blood sample | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:blood glucose monitor with integrated voice synthesizer --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:blood glucose monitor with integrated voice synthesizer | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:body habitus becomes apparent in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:body habitus becomes apparent in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bone abnormalities improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bone abnormalities improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bone anomalies may be seen on prenatal ultrasound (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bone anomalies may be seen on prenatal ultrasound (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bone changes tend to develop after first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bone changes tend to develop after first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bone fragility is not apparent at birth, but becomes evident within several months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bone fragility is not apparent at birth, but becomes evident within several months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both autosomal dominant and autosomal recessive inheritance have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both autosomal dominant and autosomal recessive inheritance have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both autosomal dominant and recessive inheritance can occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both autosomal dominant and recessive inheritance can occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both demyelinating and axonal features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both demyelinating and axonal features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both heterozygous and homozygous mutations have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both heterozygous and homozygous mutations have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both heterozygous and homozygous pax3 mutations have been found --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both heterozygous and homozygous pax3 mutations have been found | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both homozygous and heterozygous edn3 mutations have been found --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both homozygous and heterozygous edn3 mutations have been found | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both homozygous and heterozygous ednrb mutations have been found --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both homozygous and heterozygous ednrb mutations have been found | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both homozygous and heterozygous mutations in lrsam1 have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both homozygous and heterozygous mutations in lrsam1 have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both recessive and dominant inheritance have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both recessive and dominant inheritance have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:both reported cases survived beyond infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:both reported cases survived beyond infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:brain anomalies variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:brain anomalies variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:brain mri abnormalities show improvement with time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:brain mri abnormalities show improvement with time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:breech position --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:breech position | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:broad range in severity of presentation in sibships --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:broad range in severity of presentation in sibships | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:bullae are located randomly in familial cases and apical in sporadic cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:bullae are located randomly in familial cases and apical in sporadic cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:c10orf2 mutations account for approximately 35% of all peo cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:c10orf2 mutations account for approximately 35% of all peo cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy' | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:can be asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:can be asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:can be categorized into 3 groups --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:can be categorized into 3 groups | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:can be effectively treated with n-carbamylglutamate --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:can be effectively treated with n-carbamylglutamate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:can be slowly or rapidly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:can be slowly or rapidly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:can be treated by bone marrow transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:can be treated by bone marrow transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cancer onset usually in mid-adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cancer onset usually in mid-adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:candidiasis is restricted to nails of hands and feet --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:candidiasis is restricted to nails of hands and feet | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:candidiasis is usually the first symptom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:candidiasis is usually the first symptom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:capillary malformation are apparent at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:capillary malformation are apparent at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carcinomas tend to develop in mid or late adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carcinomas tend to develop in mid or late adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cardiac and pulmonary dysfunction normalize in the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cardiac and pulmonary dysfunction normalize in the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cardiac arrest and sudden death may occur, even in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cardiac arrest and sudden death may occur, even in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cardiac failure at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cardiac failure at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cardiac features are observed in ~3% of cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cardiac features are observed in ~3% of cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cardiac involvement occurs between 5 and 12 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cardiac involvement occurs between 5 and 12 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cardiac manifestations are often fatal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cardiac manifestations are often fatal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cardiomyopathy may develop later in the disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cardiomyopathy may develop later in the disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carnitine supplementation can prevent further episodes and declines in cardiac function --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carnitine supplementation can prevent further episodes and declines in cardiac function | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females are normal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females are normal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females are unaffected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females are unaffected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females have arthralgias in middle age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females have arthralgias in middle age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography. | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females may have mild features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females may have mild features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females may present with postpartum hyperammonemia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females may present with postpartum hyperammonemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females may show mild mental retardation or learning disabilities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females may show mild mental retardation or learning disabilities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females may show neuropsychologic impairment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females may show neuropsychologic impairment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier females show no clinical phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier females show no clinical phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier frequency 1:1,000 in french-canadians in quebec --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier frequency 1:1,000 in french-canadians in quebec | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier frequency 1:200,000 in france --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier frequency 1:200,000 in france | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier frequency 1:700 in bukhara jewish populations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier frequency 1:700 in bukhara jewish populations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier frequency in finland 1/40 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier frequency in finland 1/40 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier frequency in finland is 1 in 230 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier frequency in finland is 1 in 230 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier males are fertile --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier males are fertile | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier males are unaffected except for psychiatric/behavioral abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier males are unaffected except for psychiatric/behavioral abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier mothers have urine biochemistry profiles identical to those of their sons --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier mothers have urine biochemistry profiles identical to those of their sons | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier rate of 1 in 11 among old order amish --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier rate of 1 in 11 among old order amish | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cases reported in the old order amish and one japanese family (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cases reported in the old order amish and one japanese family (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cataract evident at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cataract evident at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cataracts are progressive but may vary between eyes of an individual --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cataracts are progressive but may vary between eyes of an individual | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cataracts develop by second decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cataracts develop by second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cataracts may be subclinical in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cataracts may be subclinical in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cataracts present at birth or develop in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cataracts present at birth or develop in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cataracts variably present at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cataracts variably present at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:catshl is an acronym for camptodactyly, tall stature, scoliosis, and hearing loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cause of death usually due to respiratory failure before adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cause of death usually due to respiratory failure before adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation' | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:caused by a defect in bile acid transport --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by a defect in bile acid transport | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:caused by constitutive activation of the avpr2 receptor --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by constitutive activation of the avpr2 receptor | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:caused by heterozygous germline mutation and second-hit somatic mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by heterozygous germline mutation and second-hit somatic mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:caused by inborn error in bile acid synthesis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by inborn error in bile acid synthesis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:caused by inheritance of the mutation on the maternal allele (imprinting) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by inheritance of the mutation on the maternal allele (imprinting) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:caused by paternally-inherited inactivating gnas1 mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:caused by paternally-inherited inactivating gnas1 mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cells of origin are part of the diffuse neuroendocrine system (dnes) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cells of origin are part of the diffuse neuroendocrine system (dnes) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:central apneic episodes may be fatal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:central apneic episodes may be fatal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:central hypoventilation occurs late in the disease and is often fatal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:central hypoventilation occurs late in the disease and is often fatal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cerebellar ataxia shows onset in young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cerebellar ataxia shows onset in young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:changes more marked in hands than feet --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:changes more marked in hands than feet | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:characteristic face and body by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:characteristic face and body by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:characteristic facial features become more apparent with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:characteristic facial features become more apparent with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:characterized by calf weakness at onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:characterized by calf weakness at onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cheerful disposition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cheerful disposition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:childhood onset (average 4 to 6 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood onset (average 4 to 6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:childhood onset (range birth to 12 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood onset (range birth to 12 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:childhood onset has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:childhood onset has been reported in 1 family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood onset has been reported in 1 family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:childhood onset may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood onset may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:childhood onset rarely occurs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood onset rarely occurs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:childhood or adolescent onset, protracted, with myopathy and neuropathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood or adolescent onset, protracted, with myopathy and neuropathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:childhood or young adult onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:childhood or young adult onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:children rarely develop the disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:children rarely develop the disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cholinesterase inhibitors may be beneficial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cholinesterase inhibitors may be beneficial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:chromosomal hypersensitivity to ionizing radiation and alkylating agents --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:chromosomal hypersensitivity to ionizing radiation and alkylating agents | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:chromosome rearrangements have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:chromosome rearrangements have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:chronic disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:chronic disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:chronic, relapsing condition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:chronic, relapsing condition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:citation:bib:pt:reference lab test:nar --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:citation:bib:pt:reference lab test:nar | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:classical form (type i), less severe with survival into adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:classical form (type i), less severe with survival into adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical and biochemical abnormalities improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical and biochemical abnormalities improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical and pathologic features of both demyelinating and axonal cmt --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical and pathologic features of both demyelinating and axonal cmt | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical features based on 1 reported family (last curated august 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical features based on 1 reported family (last curated august 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical features may vary --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical features may vary | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical features other than liver findings may vary --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical features other than liver findings may vary | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical features present only if mutation inherited on paternal allele --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical features present only if mutation inherited on paternal allele | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical improvement after 2 to 3 weeks of supportive care --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical improvement after 2 to 3 weeks of supportive care | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical onset within first 2 years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical onset within first 2 years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical overlap with charcot-marie-tooth disease type 2c (606071) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical overlap with charcot-marie-tooth disease type 2c (606071) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical overlap with dejerine-sottas syndrome (dss, 145900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical overlap with dejerine-sottas syndrome (dss, 145900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical overlap with thanatophoric dysplasia i (187600) and severe achondroplasia (100800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical presentation varies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical presentation varies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical severity varies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical severity varies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical variability seen in waardenburg syndrome type 1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical variability seen in waardenburg syndrome type 1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinical variation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinical variation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinically classified into classic, atypical, and intermediate phenotypes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinically classified into classic, atypical, and intermediate phenotypes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinically mimics congenital torch infections (see 251290) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinically mimics congenital torch infections (see 251290) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinically resembles spinal muscular atrophy-1 (sma1, 253300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clinically unaffected heterozygotes may show changes on electroretinography --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clinically unaffected heterozygotes may show changes on electroretinography | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clonazepam and diazepam may be effective in preventing or lessening severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clonazepam and diazepam may be effective in preventing or lessening severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:clubfoot is bilateral in most patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:clubfoot is bilateral in most patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:coagulation specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:codominant inheritance has been suggested --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:codominant inheritance has been suggested | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:colchicine treatment is not effective --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:colchicine treatment is not effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cold temeratures exacerbate symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cold temeratures exacerbate symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:colorectal cancer develops by fourth decade in untreated patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:colorectal cancer develops by fourth decade in untreated patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:common (up to 7% of the population) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:common (up to 7% of the population) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:common in afrikaan population, south africa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:common in afrikaan population, south africa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:common in japan and other asian populations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:common in japan and other asian populations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:common in south african whites --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:common in south african whites | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:communication board, non-electronic augmentative or alternative communication device --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:communication board, non-electronic augmentative or alternative communication device | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complementation group b (represented by single atypical patient) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complementation group b (represented by single atypical patient) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complementation group c (variant mliii, 252605) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complementation group c (variant mliii, 252605) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complementation groups - complementation group a (classic mliii, 252600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complementation groups - complementation group a (classic mliii, 252600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complete absence of melanin synthesis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complete absence of melanin synthesis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complete manifestation in males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complete manifestation in males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complete penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complete penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complete penetrance but extreme variability of phenotypic expression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complete penetrance but extreme variability of phenotypic expression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complete penetrance with variable expressivity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complete penetrance with variable expressivity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complete recovery during intervals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complete recovery during intervals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complete recovery upon treatment of hyperthyroidism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complete recovery upon treatment of hyperthyroidism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:complicated and pure forms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:complicated and pure forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:comprises several subtypes, including --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:comprises several subtypes, including | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:conduction defect is progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:conduction defect is progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cone-shaped epiphyses usually not present before age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cone-shaped epiphyses usually not present before age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:congenital - over 2,000 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital - over 2,000 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:congenital disorders --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital disorders | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:congenital linear skin defects may disappear within a few months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital linear skin defects may disappear within a few months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:congenital onset or onset before 2 years (prelingual) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital onset or onset before 2 years (prelingual) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:congenital or early onset hearing loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital or early onset hearing loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:congenital reduction in visual acuity is nonprogressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:congenital reduction in visual acuity is nonprogressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:connatal form (type ii), most severe with death in first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:connatal form (type ii), most severe with death in first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:considered a benign disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:considered a benign disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:considered a myeloproliferative disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:considered a myeloproliferative disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:considered a normal variant --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:considered a normal variant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:considered part of a spectrum of leber hereditary optic atrophy (lhon, 535000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:considered to be a manifestation of the caudal regression syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:considered to be a manifestation of the caudal regression syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:considered to be a severe form of gaucher disease type ii (230900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:considered to be a severe form of gaucher disease type ii (230900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:considered to be a variant of gaucher disease type iii (231000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:considered to be a variant of gaucher disease type iii (231000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contiguous gene deletion syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contiguous gene deletion syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contiguous gene deletion syndrome (in most patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contiguous gene deletion syndrome (in most patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contiguous gene deletion syndrome at chromosome 6p --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contiguous gene deletion syndrome at chromosome 6p | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contiguous gene deletion syndrome of 5q31 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contiguous gene deletion syndrome of 5q31 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contiguous gene duplication syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contiguous gene duplication syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contiguous gene syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contiguous gene syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:continuing ovulation and implantation after initiation of another pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:continuing ovulation and implantation after initiation of another pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contractures at birth or difficulties in the neonatal period resolve --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contractures at birth or difficulties in the neonatal period resolve | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:contractures most severe by midadolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:contractures most severe by midadolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:corneal diameter decreases with decreasing axial length --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:corneal diameter decreases with decreasing axial length | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:corneal steepening is proportional to the degree of axial foreshortening --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:corneal steepening is proportional to the degree of axial foreshortening | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:coronary artery disease or myocardial infarction in fifth or sixth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:coronary artery disease or myocardial infarction in fifth or sixth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:corrected by bone marrow transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:corrected by bone marrow transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:crisis precipitated by high altitude exposure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:crisis precipitated by high altitude exposure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cutaneous leiomyomas increase in number over time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cutaneous leiomyomas increase in number over time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:cyp2d6 represents about 1% of total liver cytochrome p450 content --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cyp2d6 represents about 1% of total liver cytochrome p450 content | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:d-hus is usually familial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:d-hus is usually familial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:date of analysis:tmstp:pt:xxx:qn --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:date of analysis:tmstp:pt:xxx:qn | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:date of autopsy:date:pt:^patient:qn --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:date of autopsy:date:pt:^patient:qn | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:date ultrasound:date:pt:^patient:qn --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:date ultrasound:date:pt:^patient:qn | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:de novo deletions in 8% of patients (preferentially paternally derived) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:de novo deletions in 8% of patients (preferentially paternally derived) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:de novo mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:de novo mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:de novo mutation (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:de novo mutation (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:de novo mutation identified in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:de novo mutation identified in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:de novo mutation in heterozygotes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:de novo mutation in heterozygotes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:de novo mutation in most patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:de novo mutation in most patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:de novo mutation in some cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:de novo mutation in some cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:de novo mutation resulting in haploinsufficiency of eftud2 (603892) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:de novo mutations occur almost exclusively on the paternally derived x chromosome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:de novo mutations occur almost exclusively on the paternally derived x chromosome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:deafness is presenting symptom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:deafness is presenting symptom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death about 20 years after symptom onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death about 20 years after symptom onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death at 10 to 15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death at 10 to 15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death at 13 to 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death at 13 to 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death at 20 to 40 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death at 20 to 40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death at birth or within first 2 years of life (severe form) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death at birth or within first 2 years of life (severe form) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death before age 15 in iia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death before age 15 in iia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death before age 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death before age 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death between 2 years of age and young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death between 2 years of age and young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death by age 15 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death by age 15 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death by age 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death by age 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death by age 5 (infantile form) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death by age 5 (infantile form) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death by age 6-7 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death by age 6-7 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death can occur in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death can occur in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death due to respiratory failure or infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death due to respiratory failure or infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death frequent in severe infantile form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death frequent in severe infantile form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death from stroke if untreated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death from stroke if untreated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in childhood is frequent due to respiratory failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in childhood is frequent due to respiratory failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in childhood may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in childhood may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in childhood may occur due to infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in childhood may occur due to infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in childhood occurs without bone marrow transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in childhood occurs without bone marrow transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in childhood often results from respiratory insufficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in childhood often results from respiratory insufficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in childhood secondary to malabsorption --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in childhood secondary to malabsorption | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in early childhood has been reported in some presumed homozygotes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in early childhood has been reported in some presumed homozygotes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in early infancy (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in early infancy (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in first days of life (family b) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in first days of life (family b) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in first days or months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in first days or months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in first weeks of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in first weeks of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in first-second decade of life secondary to cardio-respiratory compromise --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in first-second decade of life secondary to cardio-respiratory compromise | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy (1 patient) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy (1 patient) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy (patient b) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy (patient b) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy common for patients with the classic neonatal form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy common for patients with the classic neonatal form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy due to hyperthermia or apnea --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy due to hyperthermia or apnea | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy in majority of patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy in majority of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy secondary to kernicterus --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy secondary to kernicterus | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy secondary to pulmonary insufficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy secondary to pulmonary insufficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy without bone marrow transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy without bone marrow transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in infancy, usually from sepsis, dehydration, or acidosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in infancy, usually from sepsis, dehydration, or acidosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in teens secondary to cardiac failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in teens secondary to cardiac failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in the fifth or sixth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in the fifth or sixth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in the first decade, usually from liver failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in the first decade, usually from liver failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in the first months or years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in the first months or years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in the mid-twenties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in the mid-twenties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in untreated children --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in untreated children | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in utero --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in utero | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in utero (30%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in utero (30%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in utero or as neonate --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in utero or as neonate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in utero or early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in utero or early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death in utero or in the perinatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death in utero or in the perinatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death may occur in childhood due to respiratory failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death may occur in childhood due to respiratory failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death may occur in early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death may occur in early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death may occur in late childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death may occur in late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death may occur in the first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death may occur in the first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death occurs 10 to 20 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death occurs 10 to 20 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death occurs 5 to 10 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death occurs 5 to 10 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death occurs before 12 months of age due to cardiorespiratory arrest --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death occurs before 12 months of age due to cardiorespiratory arrest | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death occurs early in neonatal period due to respiratory failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death occurs early in neonatal period due to respiratory failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death occurs in second or third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death occurs in second or third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often before age 2 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often before age 2 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often in early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often in early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often in first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often in first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often occurs during metabolic/acidotic crisis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often occurs during metabolic/acidotic crisis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often occurs in the first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often occurs in the first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often secondary to infectious disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often secondary to infectious disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death often secondary to pneumonia or congestive heart failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death often secondary to pneumonia or congestive heart failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death secondary to respiratory infection or failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death secondary to respiratory infection or failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death secondary to respiratory insufficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death secondary to respiratory insufficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually by 1 year of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually by 1 year of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually by age 10 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually by age 10 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually by age 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually by age 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually due to renal failure by average age 3 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually due to renal failure by average age 3 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually due to respiratory failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually due to respiratory failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually in infancy or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually in sixth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in sixth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually in teenage years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in teenage years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually in the first 2 years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in the first 2 years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually in the perinatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually in the perinatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually occurs before 5th decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually occurs before 5th decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually occurs by 12 months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually occurs by 12 months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually occurs by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually occurs by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually occurs in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually occurs in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually occurs in early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually occurs in early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually occurs in first decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually occurs in first decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually occurs in infancy or childhood if untreated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually occurs in infancy or childhood if untreated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually occurs in the first weeks to months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually occurs in the first weeks to months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually within first 2 years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually within first 2 years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually within first weeks of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually within first weeks of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death usually within first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death usually within first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death within 12 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death within 12 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death within 3 months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death within 3 months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death within 6 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death within 6 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death within first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death within first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death within first months or years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death within first months or years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death within first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death within first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death within first year of life in 25% --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death within first year of life in 25% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:death within several months if untreated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:death within several months if untreated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:decrease in frequency and severity of episodes in young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:decrease in frequency and severity of episodes in young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:decrease in seizure frequency in middle age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:decrease in seizure frequency in middle age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:decreased bilirubin concentration with phenobarbital administration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:decreased bilirubin concentration with phenobarbital administration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:decreased fertility --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:decreased fertility | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:decreased life expectancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:decreased life expectancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:decreased penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:decreased penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:defect in tetrahydrobiopterin (bh4) synthesis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:defect in tetrahydrobiopterin (bh4) synthesis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:defect in urocanic acid conversion to formiminoglutamic acid (figlu) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:delayed psychomotor development apparent in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:delayed psychomotor development apparent in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:delayed separation of umbilical cord --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:delayed separation of umbilical cord | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:deletion sizes range from 287kb to 4.4mb --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:deletion sizes range from 287kb to 4.4mb | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:deletions in naip gene (600355) found in 18% of sma2 patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:deletions in naip gene (600355) found in 18% of sma2 patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:deletions in naip gene (600355) found in 18% of smaii patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:deletions in naip gene (600355) found in 18% of smaii patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:deletions occur de novo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:deletions occur de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:delta-f508 present in 70% of alleles --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:delta-f508 present in 70% of alleles | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dermatitis resolves in offspring after zinc supplementation and/or weaning --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dermatitis resolves in offspring after zinc supplementation and/or weaning | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:described in 3 unrelated infants (last curated january 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:described in 3 unrelated infants (last curated january 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:described in 6 japanese families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:described in 6 japanese families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:described in families from galicia, spain --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:described in families from galicia, spain | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:described in families from western japan --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:described in families from western japan | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:described in individuals of jewish bukharian descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:described in individuals of jewish bukharian descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:described in individuals of roma gypsy origin (founder mutation) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:described in individuals of roma gypsy origin (founder mutation) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:described in one 5-generation pakistani family (last curated april 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:described in one 5-generation pakistani family (last curated april 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:described in single afrikaner family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:described in single afrikaner family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:described predominantly in families from the philippines --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:described predominantly in families from the philippines | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:despite voluminous steatorrhea, patients' growth and overall state of health is good --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:despite voluminous steatorrhea, patients' growth and overall state of health is good | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:detected in 1/50,000 in neonatal screening programs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:detected in 1/50,000 in neonatal screening programs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:development of afebrile seizures later in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:development of afebrile seizures later in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diabetes and anemia respond to high doses of thiamine supplementation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diabetes and anemia respond to high doses of thiamine supplementation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diabetes diagnosed in second or third decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diabetes diagnosed in second or third decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diabetes mellitus develops in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diabetes mellitus develops in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diabetes mellitus diagnosed between third and fifth decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diabetes mellitus diagnosed between third and fifth decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diabetes status:prid:pt:^patient:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diabetes status:prid:pt:^patient:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diagnosed in second or third decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosed in second or third decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diagnosis in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diagnosis in seventh decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis in seventh decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diagnosis in the second decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis in the second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diagnosis made if 3/7 defects are present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis made if 3/7 defects are present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diagnosis occurs between 23 and 33 weeks' gestation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis occurs between 23 and 33 weeks' gestation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diagnosis rarely made before the fourth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis rarely made before the fourth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diagnosis typically between age 10-20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diagnosis typically between age 10-20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diarrhea persists even with vigorous nursing --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diarrhea persists even with vigorous nursing | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:die at birth or shortly after birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:die at birth or shortly after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:difficulty walking --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:difficulty walking | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dip is a pathologic diagnosis that may represent other disease entities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dip is a pathologic diagnosis that may represent other disease entities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disability by end of first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disability by end of first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disease complicated by recurrent sepsis in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disease complicated by recurrent sepsis in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disease course depends on age at onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disease course depends on age at onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disease exacerbation during summer due to heat --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disease exacerbation during summer due to heat | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disease is life-threatening if untreated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disease is life-threatening if untreated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disease is nonprogressive in most patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disease is nonprogressive in most patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disease steadily progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disease steadily progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disease usually progresses in a cephalocaudal direction --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disease usually progresses in a cephalocaudal direction | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disorder becomes apparent around age 2 years when patients begin to walk --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disorder becomes apparent around age 2 years when patients begin to walk | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disorder may progress to involve a larger body area --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disorder may progress to involve a larger body area | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disorder usually remains stable over time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disorder usually remains stable over time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:disproportionately short limbs often noted at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:disproportionately short limbs often noted at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from autosomal dominant hyper ige syndrome (147060) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from autosomal dominant hyper ige syndrome (147060) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from familial erythrocytosis (ecyt1, 133100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from familial erythrocytosis (ecyt1, 133100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from familial limb-girdle myasthenia (254200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from familial limb-girdle myasthenia (254200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from galactosemia (230400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from galactosemia (230400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from marinesco-sjogren syndrome (mss, 248800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from myasthenia gravis (mg, 254200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from myasthenia gravis (mg, 254200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from parkinson disease (168600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from parkinson disease (168600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from reduced zinc in breast milk (608118) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from reduced zinc in breast milk (608118) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinct from pili annulati (180600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinct from pili annulati (180600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinctive and stereotyped sequence of events --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinctive and stereotyped sequence of events | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:distribution of lesions may be generalized, palmoplantar, or acral --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:distribution of lesions may be generalized, palmoplantar, or acral | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diurnal fluctuation of symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diurnal fluctuation of symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:diurnal fluctuation, more apparent in earlier years, later subsides --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:diurnal fluctuation, more apparent in earlier years, later subsides | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:does not lead to hepatic failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:does not lead to hepatic failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:does not result in renal failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:does not result in renal failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dopa-responsive rigidity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dopa-responsive rigidity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dopa-unresponsive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dopa-unresponsive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dramatic late catch-up growth occurs in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dramatic late catch-up growth occurs in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dryness and impaired vision in older adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dryness and impaired vision in older adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:duane anomaly is not always present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:duane anomaly is not always present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:due to lack of epidermal ridging, patients lack fingerprints --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:due to lack of epidermal ridging, patients lack fingerprints | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dysarthria, dysphonia, or cough precede onset of ataxia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dysarthria, dysphonia, or cough precede onset of ataxia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dyskinesia may be precipitated by alcohol, stress, or fatigue --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dyskinesia may be precipitated by alcohol, stress, or fatigue | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dyskinesia may occur in homozygotes (1 reported case) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dyskinesia may occur in homozygotes (1 reported case) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dysmorphic facial features are subtle --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dysmorphic facial features are subtle | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dysmorphic facial features are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dysmorphic facial features are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dysmorphic facial features may not be present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dysmorphic facial features may not be present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dysmorphic features are mild or variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dysmorphic features are mild or variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dysmorphic features are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dysmorphic features are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dysmorphic features may be subtle --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dysmorphic features may be subtle | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dysmorphic features were only reported in 1 patient --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dysmorphic features were only reported in 1 patient | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dystonia and seizures may persist after resolution of episodes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dystonia and seizures may persist after resolution of episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dystonia is usually focal or segmental --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dystonia is usually focal or segmental | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:dystonia occurs later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:dystonia occurs later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:earlier onset associated with faster progression and shorter life span --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:earlier onset associated with faster progression and shorter life span | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:earlier onset associated with increased severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:earlier onset associated with increased severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:earlier onset is associated with more aggressive disease course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:earlier onset is associated with more aggressive disease course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:earlier onset is rare --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:earlier onset is rare | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:earlier onset may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:earlier onset may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:earliest age of onset 12 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:earliest age of onset 12 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:earliest symptom onset in sixth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:earliest symptom onset in sixth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early age of onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early age of onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early age of onset (approximately 45 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early age of onset (approximately 45 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early age of onset, usually less than 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early age of onset, usually less than 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early childhood lethality may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early childhood lethality may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early childhood onset (before age 5 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early childhood onset (before age 5 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death (mean age 13 months) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death (mean age 13 months) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death due to infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death due to infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death from infection may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death from infection may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death from respiratory failure may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death from respiratory failure may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death in early adulthood often associated with diverticulitis and intestinal perforation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death in early adulthood often associated with diverticulitis and intestinal perforation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death in patients with cloverleaf skull --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death in patients with cloverleaf skull | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death in some patients due to cardiorespiratory involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death in some patients due to cardiorespiratory involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death in the first few weeks of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death in the first few weeks of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death may occur due to infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death may occur due to infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death may occur from cardiogenic shock preceded by arrhythmia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death may occur from cardiogenic shock preceded by arrhythmia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death may occur without bone marrow transplant --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death may occur without bone marrow transplant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death often due to respiratory complications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death often due to respiratory complications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death without bone marrow transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death without bone marrow transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death without kidney transplant --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death without kidney transplant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early death, usually before age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early death, usually before age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early diagnosis and treatment prevent many complications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early diagnosis and treatment prevent many complications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early exhaustion on exertion --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early exhaustion on exertion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early lethality --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early lethality | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early lethality in most cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early lethality in most cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early onset (1 month to 4 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early onset (1 month to 4 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early onset (average 1 year) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early onset (average 1 year) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early onset has rarely been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early onset has rarely been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early onset in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early onset in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early onset of symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early onset of symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early onset, between 35-60 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early onset, between 35-60 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early treatment can reduce neurologic symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early treatment can reduce neurologic symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early-onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early-onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early-onset associated with more severe course and early death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early-onset associated with more severe course and early death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:early-onset severe renal disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:early-onset severe renal disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:echocardiogram and ophthalmologic examination normal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:echocardiogram and ophthalmologic examination normal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:eight patients from 2 unrelated families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:eight patients from 2 unrelated families have been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:eight unrelated patients have been reported (as of september 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:eight unrelated patients have been reported (as of september 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:electrolyte imbalances can mimic renal bartter syndrome (601678) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:electrolyte imbalances can mimic renal bartter syndrome (601678) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:electroretinogram reduction as early as 4 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:electroretinogram reduction as early as 4 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:elevated afp can be seen in other disorders --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:elevated afp can be seen in other disorders | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:empiric risk for a sib of an affected child between 2 and 5% --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:empiric risk for a sib of an affected child between 2 and 5% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:encephalopathic episodes associated with increased serum and csf lactate --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:encephalopathic episodes associated with increased serum and csf lactate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:end-stage renal failure in first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:end-stage renal failure in first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:end-stage renal failure in first or second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:end-stage renal failure in first or second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:endocrine abnormalities confined to kidney --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:endocrine abnormalities confined to kidney | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:endocrine and neurologic defects may become apparent later in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:endocrine and neurologic defects may become apparent later in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:endocrine defects evolve over time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:endocrine defects evolve over time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:endocrinologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:enterocolitis tends to remit with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:enterocolitis tends to remit with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:environmental triggers - cold and wet exposure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:environmental triggers - cold and wet exposure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:epilepsy with grand mal seizures on awakening (egma, 607628) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:epilepsy with grand mal seizures on awakening (egma, 607628) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:epiphyseal stippling is gone by 8 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:epiphyseal stippling is gone by 8 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episode, syncopal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episode, syncopal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes are followed by exhaustion and sleep --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes are followed by exhaustion and sleep | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes are triggered by fatigue, illness, or strenuous exercise --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes are triggered by fatigue, illness, or strenuous exercise | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes are triggered by hunger, fatigue, cold, stress --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes are triggered by hunger, fatigue, cold, stress | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes last 1 to 2 days --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes last 1 to 2 days | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes last 2 days to 1 week --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes last 2 days to 1 week | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes last about 1.5 hours --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes last about 1.5 hours | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes not triggered by alcohol, caffeine, or stress --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes not triggered by alcohol, caffeine, or stress | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes of fatigue or weakness (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes of fatigue or weakness (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes triggered by fasting, illness, fever --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes triggered by fasting, illness, fever | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes typically last 2 to 5 minutes and occur daily or several times per month --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes typically last 2 to 5 minutes and occur daily or several times per month | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodes usually last 1 to 2 days --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodes usually last 1 to 2 days | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodic decompensation is usually triggered by illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodic decompensation is usually triggered by illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:episodic metabolic decompensation usually associated with illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:episodic metabolic decompensation usually associated with illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:erythema accompanied by stinging or burning sensation in some cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:erythema accompanied by stinging or burning sensation in some cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:erythema often triggered by sudden temperature change or emotional stress --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:erythema often triggered by sudden temperature change or emotional stress | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated carrier frequency 1/100 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated carrier frequency 1/100 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated carrier frequency in charlevoix-saguenay region is 1/22 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated carrier frequency in charlevoix-saguenay region is 1/22 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated frequency 1.6 cases/10,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated frequency 1.6 cases/10,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated frequency of 1 in 40,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated frequency of 1 in 40,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated gene carrier frequency of 1 in 5,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated gene carrier frequency of 1 in 5,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated incidence 1/20,000 - 1/40,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated incidence 1/20,000 - 1/40,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated incidence of 1 in 17,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated incidence of 1 in 17,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated mutation carrier rate of 1 in 350 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated mutation carrier rate of 1 in 350 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated population frequency of 1 in 13,000-20,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated population frequency of 1 in 13,000-20,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated prevalence of 1 in 16,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated prevalence of 1 in 16,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k. | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:evidence of incomplete penetrance in one family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:evidence of incomplete penetrance in one family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:evidence of prenatal fractures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:evidence of prenatal fractures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:exacerbation at puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:exacerbation at puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:exacerbation during febrile episodes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:exacerbation during febrile episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:exacerbation following stress, decreased food intake, or alcohol use --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:exacerbation following stress, decreased food intake, or alcohol use | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:exacerbation of symptoms during or after pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:exacerbation of symptoms during or after pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:exacerbation or regression during viral infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:exacerbation or regression during viral infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:exacerbations during infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:exacerbations during infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:excessive posttraumatic blood loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:excessive posttraumatic blood loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:exercise intolerance often evident in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:exercise intolerance often evident in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:existence as a distinct entity is not confirmed --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:existence as a distinct entity is not confirmed | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:exon 7 of smn1 is absent in 95.6% of sma1 patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:exon 7 of smn1 is absent in 95.6% of sma1 patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:expression more severe in females than males, except for mosaic males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:expression more severe in females than males, except for mosaic males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:extracutaneous manifestations are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:extracutaneous manifestations are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:extreme clinical heterogeneity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:extreme clinical heterogeneity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:extreme phenotypic variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:extreme phenotypic variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:extreme sensitivity to chemotherapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:extreme sensitivity to chemotherapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:extreme variability in severity of features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:extreme variability in severity of features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:extremely variable phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:extremely variable phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:eye and vestibular findings were found in some members of one family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:eye and vestibular findings were found in some members of one family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:f syndrome (102510) has many overlapping features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:f syndrome (102510) has many overlapping features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:facial appearance becomes more apparent with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:facial appearance becomes more apparent with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:facial dysmorphic features may not be present and may become less apparent in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:facial dysmorphic features may not be present and may become less apparent in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:facial dysmorphism is age-related and alters substantially over time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:facial dysmorphism is age-related and alters substantially over time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:familial (10%) and isolated cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:familial (10%) and isolated cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:familial cases are rare and show incomplete penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:familial cases are rare and show incomplete penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:familial form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:familial form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:familial form - constitutional deficiency of vwf-cleaving protease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:familial form - constitutional deficiency of vwf-cleaving protease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:families a and b had a more severe phenotype resulting in death in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:families a and b had a more severe phenotype resulting in death in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:family b had a milder phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:family b had a milder phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:family c had a milder phenotype with survival into adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:family c had a milder phenotype with survival into adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:family history of sudden death, as early as fourth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:family history of sudden death, as early as fourth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fasting status:prthr:pt:^patient:ord:reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fasting status:prthr:pt:^patient:ord:reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fat pads become less prominent with time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fat pads become less prominent with time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fatal if renal transplant is not performed --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatal if renal transplant is not performed | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fatal in the neonatal period (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatal in the neonatal period (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fatal multiorgan failure due to severe inflammatory response in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatal multiorgan failure due to severe inflammatory response in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fatal outcome if untreated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatal outcome if untreated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fatal without bone marrow transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatal without bone marrow transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fatal without hematopoietic stem cell transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatal without hematopoietic stem cell transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fatigue --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fatigue | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable initial response to l-dopa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable initial response to l-dopa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response of episodic attacks to acetazolamide --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response of episodic attacks to acetazolamide | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response of seizures to a ketogenic diet --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response of seizures to a ketogenic diet | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to a ketogenic diet --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to a ketogenic diet | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to acetylcholinesterase inhibitors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to alcohol --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to alcohol | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to alcohol in about 50% --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to alcohol in about 50% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to antibodies against tnf-alpha (tnfa, 191160) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to antibodies against tnf-alpha (tnfa, 191160) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to anticholinesterase medication --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to anticholinesterase medication | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to anticonvulsants --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to anticonvulsants | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to antiepileptic medication --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to antiepileptic medication | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to bh4 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to bh4 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to bh4 therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to bh4 therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to cholinesterase inhibitors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to cholinesterase inhibitors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to clonazepam --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to clonazepam | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to corticosteroid treatment (1 family) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to corticosteroid treatment (1 family) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to flunarizine --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to flunarizine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to high-dose steroids --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to high-dose steroids | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to hydroxychloroquine treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to hydroxychloroquine treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to immunotherapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to immunotherapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to intermittent, low-dose steroid therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to intermittent, low-dose steroid therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to l-dopa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to l-dopa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to l-dopa treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to l-dopa treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to l-dopa without side effects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to l-dopa without side effects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to lenalidomide treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to lenalidomide treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to oral bile acid therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to oral bile acid therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to oral creatine treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to oral creatine treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to rituxan (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to rituxan (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to sodium chloride treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to sodium chloride treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to spironolactone --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to spironolactone | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to treatment with cholinesterase inhibitors or amifampridine --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to treatment with cholinesterase inhibitors or amifampridine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to treatment with coenzyme q10 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to treatment with coenzyme q10 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to treatment with minocycline or azithromycin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to treatment with minocycline or azithromycin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favorable response to treatment with riboflavin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favorable response to treatment with riboflavin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:favoring of fat and protein --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:favoring of fat and protein | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features are highly variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features are highly variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features based on one australian/uk family with tmem98 mutation (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features in addition to mental retardation are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features in addition to mental retardation are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features intermediate between demyelinating cmt and axonal cmt --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features intermediate between demyelinating cmt and axonal cmt | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features may be bilateral (15/24) or left side (9/24) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features may be bilateral (15/24) or left side (9/24) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features occur episodically --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features occur episodically | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:features usually appear during adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:features usually appear during adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:febrile attacks disappear in adulthood in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:febrile attacks disappear in adulthood in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:febrile seizures remit by age 5 or 6 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:febrile seizures remit by age 5 or 6 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:febrile seizures show onset between 6 months and 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:febrile seizures show onset between 6 months and 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:feeding difficulties in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:feeding difficulties in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:feeding difficulties, including aspiration, ameliorate with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:feeding difficulties, including aspiration, ameliorate with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:feet are unaffected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:feet are unaffected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers are unaffected or show neuropsychiatric features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers are unaffected or show neuropsychiatric features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers exhibit short stature --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers exhibit short stature | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers experience significant clinical manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers experience significant clinical manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may be less severely affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may be less severely affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may develop mild hearing loss as adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may develop mild hearing loss as adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may have asymptomatic proteinuria or hypercalciuria --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have asymptomatic proteinuria or hypercalciuria | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may have cardiac defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have cardiac defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may have hearing loss and/or subclinical peripheral neuropathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have hearing loss and/or subclinical peripheral neuropathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may have mild hearing impairment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have mild hearing impairment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may have mild hearing impairment and/or mild signs of choroideremia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have mild hearing impairment and/or mild signs of choroideremia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may have mild mental retardation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have mild mental retardation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may have short stature and premature ovarian failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have short stature and premature ovarian failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may have subtle manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may have subtle manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may show mild learning disabilities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may show mild learning disabilities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female carriers may show some manifestations, such as hearing impairment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female carriers may show some manifestations, such as hearing impairment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female mutation carriers are less severely affected than male mutation carriers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female mutation carriers are less severely affected than male mutation carriers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female mutation carriers have earlier age at onset compared to male mutation carriers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female mutation carriers have earlier age at onset compared to male mutation carriers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female predominance (4:1) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female predominance (4:1) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female preponderance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female preponderance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female to male ratio 5:1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female to male ratio 5:1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female to male ratio 8-13:1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female to male ratio 8-13:1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female to male ratio ranges from 2:1 to 4:1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female to male ratio ranges from 2:1 to 4:1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:female to male ratio, 1:1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:female to male ratio, 1:1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:females are more often affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:females are more often affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:females are most often affected, but rare male cases have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:females are most often affected, but rare male cases have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:females carriers have more variable age at onset and severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:females carriers have more variable age at onset and severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:females demonstrate lyonization with corresponding phenotypic variation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:females demonstrate lyonization with corresponding phenotypic variation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:females have milder manifestations than males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:females have milder manifestations than males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:females may be unaffected or mildly affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:females may be unaffected or mildly affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:females more severely affected than males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:females more severely affected than males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:females tend to have earlier onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:females tend to have earlier onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fetal death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fetal death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fetal death may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fetal death may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fetal death usually occurs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fetal death usually occurs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fever of unknown origin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fever of unknown origin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fever, muscle cramping, and poor feeding remit by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fever, muscle cramping, and poor feeding remit by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:few patients with mild to moderate mental retardation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:few patients with mild to moderate mental retardation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fifty percent of cases are sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fifty percent of cases are sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fifty percent of cases secondary to new mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fifty percent of cases secondary to new mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fifty-percent of individuals responsive to pyridoxine (vitamin b6) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:figure associated with report or note:-:point in time:^patient:- --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:figure associated with report or note:-:point in time:^patient:- | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:findings in muscle biopsy may be variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:findings in muscle biopsy may be variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:first described in acadian population of louisiana --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:first described in acadian population of louisiana | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:first described in gypsy group from bulgaria --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:first described in gypsy group from bulgaria | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:first identified in individuals of cypriot origin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:first identified in individuals of cypriot origin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:first name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:first name:pn:pt:^guardian or legally authorized representative:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five children from 2 unrelated consanguineous palestinian families have been reported (last curated january 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five clinical variants of msud unassociated with genotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five clinical variants of msud unassociated with genotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five patients from 3 unrelated families have been reported (last curated september 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five patients from 3 unrelated families have been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five patients have been reported (as of 8/2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five patients have been reported (as of 8/2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five patients have been reported (as of april 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five patients have been reported (as of april 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five patients have been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five patients have been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five patients reported (as of march 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five patients reported (as of march 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five reported patients, all boys (as of july 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five reported patients, all boys (as of july 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five unrelated cases have been reported (as of march 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five unrelated cases have been reported (as of march 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five unrelated patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five unrelated patients have been reported (as of december 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five unrelated patients have been reported (last curated july 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five unrelated patients have been reported (last curated july 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five unrelated patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five unrelated patients have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:five unrelated patients have been reported (nov. 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:five unrelated patients have been reported (nov. 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:flares triggered by viral infection, overexertion, stress --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:flares triggered by viral infection, overexertion, stress | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:flunarizine treatment may be beneficial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:flunarizine treatment may be beneficial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fluoxetine therapy may be effective --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fluoxetine therapy may be effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:focal or segmental onset in cranial-cervical area or upper limbs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:focal or segmental onset in cranial-cervical area or upper limbs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:following fever in infancy, muscular weakness and poor growth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:following fever in infancy, muscular weakness and poor growth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:food intolerance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:food intolerance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:food related behavioral problems include excessive appetite and obsession with eating --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:food related behavioral problems include excessive appetite and obsession with eating | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:foot dragging may appear in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:foot dragging may appear in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:for similar autosomal dominant form, see 162350 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:for similar autosomal dominant form, see 162350 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:for similar autosomal recessive form, see cln4 (204300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:for similar autosomal recessive form, see cln4 (204300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:forty percent of patients die in the first year --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:forty percent of patients die in the first year | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:found predominantly in the amish population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:found predominantly in the amish population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:founder effect in irish traveler population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:founder effect in irish traveler population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:founder effect in turkish families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:founder effect in turkish families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four cases have been reported, all female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four cases have been reported, all female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four clinical forms of krabbe disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four clinical forms of krabbe disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four clinically indistinguishable biochemically distinct forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four families have been reported (last curated june 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four families have been reported (last curated june 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four families have been reported (last curated october 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four families have been reported (last curated october 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four individual patients and 1 saudi family have been reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four individual patients and 1 saudi family have been reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four major groups: early infantile, late infantile, juvenile, adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four major groups: early infantile, late infantile, juvenile, adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients from 2 unrelated families have been reported (last curated april 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients from 2 unrelated families have been reported (last curated april 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients from 3 families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients from 3 families have been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients from 3 families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients from 3 families have been reported (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients from 3 families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients from 3 families have been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients from 3 families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients from 3 families have been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients from 3 families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients from 3 families have been reported (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients from 3 unrelated families have been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients from 3 unrelated families have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients from 3 unrelated families have been reported (last curated july 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients from 3 unrelated families have been reported (last curated july 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients have been reported (as of december 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients have been reported (as of july 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients have been reported (as of july 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients have been reported (last curated june 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients have been reported (last curated june 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients have been reported from pakistan (as of march 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients have been reported from pakistan (as of march 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four patients reported (last curated april 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four patients reported (last curated april 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four sibs from the old order mennonite community has been reported (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four sibs from the old order mennonite community has been reported (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four types of cgd with basically identical clinical phenotypes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four types of cgd with basically identical clinical phenotypes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated boys have been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated boys have been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated families have been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated families of caucasian european descent have been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated families of caucasian european descent have been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated patients have been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated patients have been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated patients have been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated patients have been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated patients have been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated patients have been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated patients have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated patients have been reported (last curated october 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated patients have been reported (last curated october 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated patients have been reported (last curated september 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated patients have been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated patients reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated patients reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:four unrelated patients with zswim6 mutations have been described (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fracture frequency constant through childhood, decreases after puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fracture frequency constant through childhood, decreases after puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fracture frequency increases after menopause and in men ages 60-80 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fracture frequency increases after menopause and in men ages 60-80 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fractures occur in first few months, then decrease in frequency and then occur with ambulation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fractures occur in first few months, then decrease in frequency and then occur with ambulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:fractures often heal without deformity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:fractures often heal without deformity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequency 1/100,000 - 1/130,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequency 1/100,000 - 1/130,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequency and severity of seizures tends to decrease with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequency and severity of seizures tends to decrease with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequency between 1 in 58,000 to 1 in 1,000,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequency between 1 in 58,000 to 1 in 1,000,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequency increases with advancing age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequency increases with advancing age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequency of attack, monthly - bimonthly --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequency of attack, monthly - bimonthly | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequency of attacks may decrease with age or during pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequency of attacks may decrease with age or during pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequency of episodes ranges from several per week to several per year --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequency of episodes ranges from several per week to several per year | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequent falls --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequent falls | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequent neonatal sudden death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequent neonatal sudden death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequently death in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequently death in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequently fatal within the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequently fatal within the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frequently occurs in navajo children, especially in western reservations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frequently occurs in navajo children, especially in western reservations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:funduscopy before 2 years of age is unremarkable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:funduscopy before 2 years of age is unremarkable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gait abnormality --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gait abnormality | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gait difficulties and beginning of cognitive decline in first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gait difficulties and beginning of cognitive decline in first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gastrointestinal anomalies are not always present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gastrointestinal anomalies are not always present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gei (gene-environment interaction) - association of cardiac events with drug administration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gei (gene-environment interaction) - association of cardiac events with drug administration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gender-specific phenotype (homozygous men are fertile) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gender-specific phenotype (homozygous men are fertile) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gene frequency in northwest puerto rico 1 in 18 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gene frequency in northwest puerto rico 1 in 18 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:generalized dystonia in some cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:generalized dystonia in some cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:generalized fatigue --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:generalized fatigue | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:generally benign disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:generally benign disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:generally considered to be a benign disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:generally considered to be a benign disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:generally mild phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:generally mild phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:generally static disease course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:generally static disease course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic anticipation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic anticipation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic anticipation associated with progressive telomere shortening --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic anticipation associated with progressive telomere shortening | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic anticipation has been observed --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic anticipation has been observed | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic anticipation occurs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic anticipation occurs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (bor2, 610896) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (bor2, 610896) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (ccm2 603284, ccm3 603285) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (ccm2 603284, ccm3 603285) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 125800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 125800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 145410) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 145410) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 157640) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 157640) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 159900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 159900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 161400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 161400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 166600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 166600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 191100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 191100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 192600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 192600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 209850) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 209850) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 213300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 213300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 214300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 214300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 259700) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 259700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 266900 for summary) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 266900 for summary) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 304800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 304800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 601680) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 601680) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 604559) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 604559) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 606215) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 606215) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 607634) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 607634) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 608638) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 608638) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 610168) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 610168) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see 613254) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see 613254) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see bafme2, 607876) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see bafme2, 607876) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see bfic2, 605751) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see bfic2, 605751) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see bscl1, 608594) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see bscl1, 608594) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see bscl2, 269700) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see bscl2, 269700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cftd1, 255310) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cftd1, 255310) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cms1a1, 605809) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cms1a1, 605809) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cmt1b 118200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cmt1b 118200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cmt2a 118210) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cmt2a 118210) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cmt2b2, 605589) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cmt2b2, 605589) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cmt4a 214400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cmt4a 214400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cmt4b1, 601382) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cmt4b1, 601382) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cmt4b2, 604563) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cmt4b2, 604563) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cmtdia 606483) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cmtdia 606483) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see cnc2, 605244) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see cnc2, 605244) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see coxpd1, 609060) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see coxpd1, 609060) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see ebn2 121201, ebn3 608217) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see ebn2 121201, ebn3 608217) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see eca1, 600131 and eca3, 607682) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see enfl1, 600513) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see enfl1, 600513) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see etl2, 608096) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see etl2, 608096) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see feb1 121210) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see feb1 121210) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see fhm1 141500 and mgr6 607516) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see gefs+, 604233) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see gefs+, 604233) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see hcfp1, 601471) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see hcfp1, 601471) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see hcfp2, 604185) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see hcfp2, 604185) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see hhf1 256450) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see hhf1 256450) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see hht1, 187300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see hht1, 187300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see lgmd1a 159000 for overview) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see lgmd1a 159000 for overview) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see lqt1 192500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see lqt1 192500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see mada, 248370) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see mada, 248370) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see madb, 608612) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see madb, 608612) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see mcc2 deficiency 210210) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see mcc2 deficiency 210210) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see npc1, 257220) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see npc1, 257220) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see npc2, 607625) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see npc2, 607625) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see ofc1, 119530) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see ofc1, 119530) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see pfic1, 211600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see pfic1, 211600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see pfm1, 168500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see pfm1, 168500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see psnp1 601104) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see psnp1 601104) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see psnp2 609454) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see psnp2 609454) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see rieg2, 601499) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see rieg2, 601499) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see rls2, 608831) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see rls2, 608831) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see rmd, 606072) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see rmd, 606072) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see rmd1, 600332) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see rmd1, 600332) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see sca1, 164000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see sca1, 164000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see, e.g., 600795, 105550) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see, e.g., 600795, 105550) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see, e.g., 608631, 300494, 300497) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see, e.g., atfb1, 608583) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see, e.g., atfb1, 608583) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see, e.g., atfb3, 607554) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see, e.g., atfb3, 607554) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (sli2 606712, sli3 607134) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (sli2 606712, sli3 607134) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity (x-linked form 305100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity (x-linked form 305100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity of axonal cmt (see cmt2a 118210) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity of axonal cmt (see cmt2a 118210) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity of waardenburg syndrome type 2 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity of waardenburg syndrome type 2 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see (203300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see (203300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see apmr1 (203650) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see apmr1 (203650) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see aprm2 (610422) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see aprm2 (610422) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see bos2 (120502) and bos3 (608389) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see cild1 (244400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see cild1 (244400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see ekd1 (128200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see ekd1 (128200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see evr1 (133780) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see evr1 (133780) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see fhm1 141500 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see fhm1 141500 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see lgmd2a (253600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see lgmd2a (253600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see mgr1 (157300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see mgr1 (157300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see ppnad1 (610489) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see ppnad1 (610489) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see ppnad2 (610475) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see ppnad2 (610475) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see sca1 (164400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see sca1 (164400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see spg3a (182600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see spg3a (182600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see spg5a (270800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see spg5a (270800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genetic heterogeneity, some patients not linked to fgfr3 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genetic heterogeneity, some patients not linked to fgfr3 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:genomic duplications occur de novo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:genomic duplications occur de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:germline and somatic mutations contribute to this disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:germline and somatic mutations contribute to this disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:germline or somatic mutations may cause the disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:germline or somatic mutations may cause the disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gestational age:time:pt:^fetus:qn:amniocentesis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gestational age:time:pt:^fetus:qn:amniocentesis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gliomas may occur in association with other hereditary tumor syndromes (see 276300, 155755, 162200, 101000, 191100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:global developmental delay --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:global developmental delay | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gms is goniodysgenesis, mental deficiency, and short stature --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gms is goniodysgenesis, mental deficiency, and short stature | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gonadal mosaicism may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gonadal mosaicism may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gonadal mosaicism reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gonadal mosaicism reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to clonazepam --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to clonazepam | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to fibrinolytic inhibitors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to fibrinolytic inhibitors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to gaba-enhancing medications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to gaba-enhancing medications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to immunotherapy (intravenous igg or plasmapheresis) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to immunotherapy (intravenous igg or plasmapheresis) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to l-dopa initially --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to l-dopa initially | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to levodopa treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to levodopa treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to medication --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to medication | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to phosphate treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to phosphate treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good response to vitamin d treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good response to vitamin d treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:good seizure control with medication --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:good seizure control with medication | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gradual progression of hearing loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gradual progression of hearing loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gradual spontaneous improvement in the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gradual spontaneous improvement in the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:greater expression in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:greater expression in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:green color resolves if cholestasis is treated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:green color resolves if cholestasis is treated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:green jaundice occurs only in the context of liver failure or obstructive cholestasis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:green jaundice occurs only in the context of liver failure or obstructive cholestasis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:group a patients die in the first years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:group a patients die in the first years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:group a, found in north american indians, has lactic acidosis and psychomotor retardation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:group a, found in north american indians, has lactic acidosis and psychomotor retardation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:group b patients die by 3 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:group b patients die by 3 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:group b, found in france and united kingdom, severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:group b, found in france and united kingdom, severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:group c is relatively benign --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:group c is relatively benign | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:growth retardation onset in utero --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:growth retardation onset in utero | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hair loss begins in first years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hair loss begins in first years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hair may normalize at puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hair may normalize at puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hair phenotype present at birth and involves entire scalp region --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hair phenotype present at birth and involves entire scalp region | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hair tends to straighten by 2nd-3rd decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hair tends to straighten by 2nd-3rd decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hair, nails, and teeth are normal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hair, nails, and teeth are normal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:half (50%) of affected patients have a recurrent episode with worse outcome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:half (50%) of affected patients have a recurrent episode with worse outcome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:half of cases show retarded head circumference equal to height retardation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:half of cases show retarded head circumference equal to height retardation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hand involvement improves with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hand involvement improves with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:haploinsufficiency of grn (138945) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:haploinsufficiency of grn (138945) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:haploinsufficiency of rps14 (130620) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:haploinsufficiency of rps14 (130620) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:has been described in patients of caucasus jewish origin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:has been described in patients of caucasus jewish origin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:headache duration 4-72 hours --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:headache duration 4-72 hours | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:headaches last hours to days --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:headaches last hours to days | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:health data repository:id:pt:repository:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:health data repository:id:pt:repository:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:health insurance plan benefits comment:finding:point in time:^patient:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:health insurance plan benefits comment:finding:point in time:^patient:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing impairment may improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing impairment may improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss and hoarseness occur later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss and hoarseness occur later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss and ocular findings are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss and ocular findings are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss is congenital and nonprogressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss is congenital and nonprogressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss is nonprogressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss is nonprogressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss is pre- or perilingual in onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss is pre- or perilingual in onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss is progressive and initially affects high-frequencies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss is progressive and initially affects high-frequencies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss is variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss is variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss may be stable or progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss may be stable or progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss may vary in severity and range between ears --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss may vary in severity and range between ears | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss typically begins between 3 and 4 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss typically begins between 3 and 4 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss was diagnosed between 3 months to 1 year of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss was diagnosed between 3 months to 1 year of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hearing loss was progressive in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hearing loss was progressive in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hemolysis may be exercise-induced --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hemolysis may be exercise-induced | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hernia occurs in 22% of adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hernia occurs in 22% of adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterogeneous disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterogeneous disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes are usually asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes are usually asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes exhibit subclinical metabolic and immunologic abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes have half-normal levels of apob-containing lipoproteins --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes have half-normal levels of apob-containing lipoproteins | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes have mild, transient hypothyroidism in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes have mild, transient hypothyroidism in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous carriers have an increased risk of metabolic dysfunction --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous carriers have an increased risk of metabolic dysfunction | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous carriers have decreased blood pressure compared to the general population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous carriers have decreased blood pressure compared to the general population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous females may have gout and/or sensorineural deafness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous females may have gout and/or sensorineural deafness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous mutation carriers may have late-onset cardiac arrhythmias --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous mutation carriers may have late-onset cardiac arrhythmias | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous mutation carriers may show mild symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous mutation carriers may show mild symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous mutation present in 5-7% of the japanese population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous mutation present in 5-7% of the japanese population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous mutations reported, see 606609.0006 and 606609.0007 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous mutations reported, see 606609.0006 and 606609.0007 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hhs is a more severe variant, often resulting in death in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hhs is a more severe variant, often resulting in death in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high disease prevalence among french-canadians --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high disease prevalence among french-canadians | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high early mortality rate if untreated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high early mortality rate if untreated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency among french-canadians --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency among french-canadians | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency in equatorial africa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency in equatorial africa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency in finnish population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency in finnish population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency in hutterite population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency in hutterite population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency in japan (2 in 20,000, 0.1%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency in japan (2 in 20,000, 0.1%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency in northeastern brazil --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency in northeastern brazil | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency in southern india (7% of all epilepsies) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency in southern india (7% of all epilepsies) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency in the french-canadian population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency in the french-canadian population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency in tibetan individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency in tibetan individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency of de novo mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency of de novo mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high frequency seizures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high frequency seizures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high incidence among ashkenazi jews --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high incidence among ashkenazi jews | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high incidence among old order amish --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high incidence among old order amish | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high incidence in iraqis and sephardic jewish individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high incidence in iraqis and sephardic jewish individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high incidence in sweden and finland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high incidence in sweden and finland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high incidence of diabetes mellitus noted in opll patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high incidence of diabetes mellitus noted in opll patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high incidence of e. coli sepsis in untreated neonates --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high incidence of e. coli sepsis in untreated neonates | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high infant mortality due to malnutrition as well as complications of parenteral nutrition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high infant mortality due to malnutrition as well as complications of parenteral nutrition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high intrafamilial and interfamilial variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high intrafamilial and interfamilial variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high occurrence of de novo mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high occurrence of de novo mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high prevalence among individuals of middle eastern or african descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high prevalence among individuals of middle eastern or african descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high prevalence among individuals of portuguese descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high prevalence among individuals of portuguese descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high prevalence in charlevoix-saguenay region of northeastern quebec --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high prevalence in charlevoix-saguenay region of northeastern quebec | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high prevalence in holguin province of cuba --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high prevalence in holguin province of cuba | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high prevalence in japan --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high prevalence in japan | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high prevalence in the east asian population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high prevalence in the east asian population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:high risk of death in infancy due to cardiac failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:high risk of death in infancy due to cardiac failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highest incidence in men of european descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highest incidence in men of european descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable age at onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable age at onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable age at onset (range childhood to late adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable age at onset (range childhood to late adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable clinical and immunologic phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable clinical and immunologic phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable degree of bone fragility, even among patients carrying the same mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable degree of bone fragility, even among patients carrying the same mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable dysmorphic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable dysmorphic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable expressivity within families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable expressivity within families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable intrafamilial expression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable intrafamilial expression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable intrafamilial severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable intrafamilial severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable pathologic phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable pathologic phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable phenotype and age of onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype and age of onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable phenotype and severity, even within families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype and severity, even within families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable phenotype in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable phenotype with regard to pigmentation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype with regard to pigmentation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable phenotype, ranging from asymptomatic to death by age 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype, ranging from asymptomatic to death by age 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:highly variable severity of muscle weakness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:highly variable severity of muscle weakness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hip replacement in early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hip replacement in early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:histologic features overlap with henoch-schonlein purpura (hspn) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:histologic features overlap with henoch-schonlein purpura (hspn) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:homo sapiens do not have a functional l-gulonolactone oxidase gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:homo sapiens do not have a functional l-gulonolactone oxidase gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy' | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:homozygotes have earlier onset and a more severe disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:homozygotes have earlier onset and a more severe disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:homozygous patients have earlier-onset and more severe disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:homozygous patients have earlier-onset and more severe disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hyperkeratosis triggered by chronic mechanical irritation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hyperkeratosis triggered by chronic mechanical irritation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hypertension is presenting sign --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hypertension is presenting sign | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hypogonadism reported in a large swedish kindred --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hypogonadism reported in a large swedish kindred | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hyponatremia usually associated with gastroenteritis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hyponatremia usually associated with gastroenteritis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hypotonia may respond to treatment with pyridostigmine --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hypotonia may respond to treatment with pyridostigmine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:immunodeficiency is progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:immunodeficiency is progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:immunologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:immunosuppressive therapy may be beneficial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:immunosuppressive therapy may be beneficial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:impaired healing --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:impaired healing | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:imprinting at 11p15.5 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:imprinting at 11p15.5 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:improvement of abnormal muscle biopsy and cox deficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:improvement of abnormal muscle biopsy and cox deficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:improvement of epimetaphyseal changes with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:improvement of epimetaphyseal changes with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:in most cases capillary lesions are multifocal at birth and may increase in number with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in most cases capillary lesions are multifocal at birth and may increase in number with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:in some patients, qtc interval is prolonged only during exercise testing --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:in some patients, qtc interval is prolonged only during exercise testing | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:inborn error of the pyrimidine degradation pathway --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:inborn error of the pyrimidine degradation pathway | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence - 1 in 25,000-100,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence - 1 in 25,000-100,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence 1 in 20,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1 in 20,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence 1 in 300,000 in japan --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1 in 300,000 in japan | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence 1 in 50,000-100,000 in western europe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1 in 50,000-100,000 in western europe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence 1 in 6,000 to 1 in 8,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1 in 6,000 to 1 in 8,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence 1/1,200-1/15,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1/1,200-1/15,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence 1/20,000-1/64,000 male births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 1/20,000-1/64,000 male births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence 2-5% of north american children --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 2-5% of north american children | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence 7-15% in pacific island populations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence 7-15% in pacific island populations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence approximately 2-3/10,000 newborns --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence approximately 2-3/10,000 newborns | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence in finland is 1 in 76,000 births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence in finland is 1 in 76,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence in japan is 1 in 57,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence in japan is 1 in 57,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence in the finnish population of 0.2-1.3 cases per million per year --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence in the finnish population of 0.2-1.3 cases per million per year | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence in united states of 1 in 55,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence in united states of 1 in 55,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence is less than 1 in 70,000 births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence is less than 1 in 70,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 0.51 per million in france --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 0.51 per million in france | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 1,000,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 1,000,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 100 in some local nordic areas --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 100 in some local nordic areas | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 100,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 100,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 100,000 births in caucasians --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 100,000 births in caucasians | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 150,000 live births in the general population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 150,000 live births in the general population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 20,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 20,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 25,000 to 1 in 50,000 newborns --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 25,000 to 1 in 50,000 newborns | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 276,000 in the netherlands --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 276,000 in the netherlands | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 3,900 births among jewish persons --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 3,900 births among jewish persons | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 320,000 births among non-jewish persons --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 320,000 births among non-jewish persons | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 40,000 infants worldwide --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 40,000 infants worldwide | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 480 among old order amish --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 480 among old order amish | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 5,000-8,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 5,000-8,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 500,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 500,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 in 6,000 males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 in 6,000 males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1 per 10,000 births in japan --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1 per 10,000 births in japan | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1% in yarmouth county, nova scotia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1% in yarmouth county, nova scotia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1/100,000 in italy and finland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1/100,000 in italy and finland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 1/50,000 births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 1/50,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 12.2 per 100,000 in finland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 12.2 per 100,000 in finland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of 4 per million per year --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of 4 per million per year | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of all forms of cjd is 0.5 to 1.5 per million per year --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of all forms of cjd is 0.5 to 1.5 per million per year | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of mh in anesthetized adults is 1 in 50,000-100,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence of mh in anesthetized children is 1 in 15,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence of mh in anesthetized children is 1 in 15,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence ranges from 1 in 238,095 to 1 in 300,000 births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence ranges from 1 in 238,095 to 1 in 300,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence ranges from 1 in 8,500 to 1 in 12,000 births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence ranges from 1 in 8,500 to 1 in 12,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incidence, 1 in 650-1000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incidence, 1 in 650-1000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete age-dependent penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete age-dependent penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete penetance of some features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetance of some features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete penetrance (about 80%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance (about 80%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete penetrance (as low as 30% in some cases) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance (as low as 30% in some cases) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete penetrance in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete penetrance of the cardiac phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance of the cardiac phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete penetrance, some individuals have only emg changes without other clinical signs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete penetrance, some individuals have only emg changes without other clinical signs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incomplete, age-associated penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incomplete, age-associated penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:incompletely penetrant phenotype in heterozygotes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:incompletely penetrant phenotype in heterozygotes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased abortuses of homozygous or compound heterozygous fetuses --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased abortuses of homozygous or compound heterozygous fetuses | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased bleeding after surgery --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased bleeding after surgery | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency among individuals of ashkenazi jewish descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency among individuals of ashkenazi jewish descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency among individuals of east asian descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency among individuals of east asian descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency among japanese and chinese --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency among japanese and chinese | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency among jewish iranian individuals from isfahan --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency among jewish iranian individuals from isfahan | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in ashkenazi jewish population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in ashkenazi jewish population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in ashkenazi jewish population (1/100 are carriers) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in ashkenazi jewish population (1/100 are carriers) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in ashkenazi jewish population and in finland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in ashkenazi jewish population and in finland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in ashkenazi jews (carrier frequency 1 in 14) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in eastern pennsylvania amish --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in eastern pennsylvania amish | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in finland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in finland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in finland (incidence 1:60,000 finnish newborns) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in finland (incidence 1:60,000 finnish newborns) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in finland (prevalence of 1 in 20,000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in finland (prevalence of 1 in 20,000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in individuals of asian descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in individuals of asian descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in individuals originating from western scotland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in individuals originating from western scotland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in persian jews (1:1,300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in persian jews (1:1,300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in the dariusleut hutterites (canada) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in the dariusleut hutterites (canada) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in the faroe islands (carrier 1 in 25) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in the faroe islands (carrier 1 in 25) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in the finnish population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in the finnish population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in the state of bahia, brazil --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in the state of bahia, brazil | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased male-to-female ratio (3-4 to 1) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased male-to-female ratio (3-4 to 1) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased morbidity/mortality in affected males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased morbidity/mortality in affected males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased penetrance of phenotype when there is maternal transmission of the mutant allele --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased penetrance of phenotype when there is maternal transmission of the mutant allele | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased prevalence among smokers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased prevalence among smokers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased prevalence among the finnish --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased prevalence among the finnish | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased prevalence among women --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased prevalence among women | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased prevalence in individuals of jewish-iraqi origin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased prevalence in individuals of jewish-iraqi origin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased prevalence in individuals of turkish descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased prevalence in individuals of turkish descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased prevalence in northern finland (7.3/100,000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased prevalence in northern finland (7.3/100,000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased prevalence in persons of ashkenazi jewish descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased prevalence in persons of ashkenazi jewish descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased prevalence in the french-canadian population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased prevalence in the french-canadian population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased rate of miscarriage in affected individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased rate of miscarriage in affected individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased risk of bilateral breast cancer --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased risk of bilateral breast cancer | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased risk of developing multiple primary cancers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased risk of developing multiple primary cancers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased risk of miscarriage --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased risk of miscarriage | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased risk of post-splenectomy thrombotic complications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased risk of post-splenectomy thrombotic complications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased risk of post-splenectomy thrombotic complications (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased risk of post-splenectomy thrombotic complications (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased sensitivity to heat --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased sensitivity to heat | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased spontaneous abortions in carrier mothers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased spontaneous abortions in carrier mothers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased susceptibility to infections --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased susceptibility to infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased susceptibility to neisseria infections --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased susceptibility to neisseria infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increased tendency to chromosomal nondisjunction --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increased tendency to chromosomal nondisjunction | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:increasing hypertension with increasing age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:increasing hypertension with increasing age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:individuals develop ability to stand and walk --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:individuals develop ability to stand and walk | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:individuals may accumulate more pigment in hair and eyes with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:individuals may accumulate more pigment in hair and eyes with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:individuals with the pcs trait are phenotypically normal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:individuals with the pcs trait are phenotypically normal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:infant death may occur secondary to sepsis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infant death may occur secondary to sepsis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:infantile form usually leads to death by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infantile form usually leads to death by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:infantile onset (in 1 patient) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infantile onset (in 1 patient) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:infants are stillborn or die before age 1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infants are stillborn or die before age 1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:infants may die from apnea or aspiration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infants may die from apnea or aspiration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:infants occasionally mistaken as having down syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infants occasionally mistaken as having down syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:infertility --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:infertility | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:inheritance may be x-linked dominant --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:inheritance may be x-linked dominant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:initially normal for first 6-18 months which is then followed by withdrawal and regression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:initially normal for first 6-18 months which is then followed by withdrawal and regression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intellectual disability is variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intellectual disability is variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intelligence is normal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intelligence is normal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:interfamilial and intrafamilial variability in severity of symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:interfamilial and intrafamilial variability in severity of symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intermediate levels of factor x in mildly symptomatic heterozygotes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intermediate levels of factor x in mildly symptomatic heterozygotes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intermittent pyrexia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intermittent pyrexia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intolerant of heat --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intolerant of heat | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intracellular accumulation of material may not always be apparent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intracellular accumulation of material may not always be apparent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intrafamilial variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intrafamilial variability in degree of nail involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial variability in degree of nail involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intrafamilial variability in severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial variability in severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intrafamilial variation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrafamilial variation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:involuntary and nonvolitional phenomenon --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:involuntary and nonvolitional phenomenon | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:isolated cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:isolated cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:jbts shows autosomal dominant inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:jbts shows autosomal dominant inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:joint dislocations become less frequent with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:joint dislocations become less frequent with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:joint replacement often necessary --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:joint replacement often necessary | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:juvenile absence epilepsy (jae, 607631) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:juvenile absence epilepsy (jae, 607631) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:juvenile and adult forms are isolated glycerol kinase deficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:juvenile and adult forms are isolated glycerol kinase deficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:juvenile myoclonic epilepsy (jme, 606904) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:juvenile myoclonic epilepsy (jme, 606904) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:juvenile-onset (before 15 years of age) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:juvenile-onset (before 15 years of age) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:keratitis-ichthyosis-deafness syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:keratitis-ichthyosis-deafness syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:kid syndrome and hid syndrome are identical at the molecular level --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:kid syndrome and hid syndrome are identical at the molecular level | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:laboratory comment:txt:pt:report:nar --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:laboratory comment:txt:pt:report:nar | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:laboratory director name:pn:pt:provider:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:laboratory director name:pn:pt:provider:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:laboratory findings are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:laboratory findings are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:laryngeal edema can result in asphyxiation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:laryngeal edema can result in asphyxiation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:last name:pn:pt:^guardian or legally authorized representative:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:last name:pn:pt:^guardian or legally authorized representative:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:late infantile form has onset between 19 months and 4 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late infantile form has onset between 19 months and 4 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:late onset combined immunodeficiency with allelic variant 102700.0020 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late onset combined immunodeficiency with allelic variant 102700.0020 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:late-adult onset (age 50 or later) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late-adult onset (age 50 or later) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:late-adult onset (range 50 to 80 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:late-adult onset (range 50 to 80 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:later childhood onset has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later childhood onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:later onset associated with milder severity has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset associated with milder severity has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:later onset has been rarely reported (up to age 68 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset has been rarely reported (up to age 68 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:later onset has been reported (third or fourth decades) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset has been reported (third or fourth decades) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:later onset in adolescence has rarely been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset in adolescence has rarely been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:later onset is associated with slower progression and lesser severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset is associated with slower progression and lesser severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:later onset may occur (1 to 11 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset may occur (1 to 11 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:later onset of ophthalmoparesis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset of ophthalmoparesis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:later onset with a milder phenotype may also occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:later onset with a milder phenotype may also occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:left side involvement associated with serious cardiac defect --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:left side involvement associated with serious cardiac defect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:leigh syndrome, x-linked --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:leigh syndrome, x-linked | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:length of calorie fast:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:length of calorie fast:time:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:length of time post dose:time:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:length of time post dose:time:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lesions appear in infancy or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lesions appear in infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lesions grow and spread with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lesions grow and spread with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lesions may become more prominent with sun exposure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lesions may become more prominent with sun exposure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lesions occur mainly on the pinnae of the ears or on the face --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lesions occur mainly on the pinnae of the ears or on the face | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:less severe phenotype in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:less severe phenotype in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:less than 50% penetrance in some families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:less than 50% penetrance in some families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lethal in 40% of patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lethal in 40% of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lethal in first weeks of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lethal in first weeks of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lethal in the neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lethal in the neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lethal in utero or in the perinatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lethal in utero or in the perinatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:levodopa-responsive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:levodopa-responsive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:life-threatening in infancy due to sepsis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:life-threatening in infancy due to sepsis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lifetime risk of breast cancer in male mutation carriers in 6% --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lifetime risk of breast cancer in male mutation carriers in 6% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lifetime risk of breast cancer in mutation carriers is 80 to 90% --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lifetime risk of breast cancer in mutation carriers is 80 to 90% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:limited clinical information due to surgical removal of lens in affected individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limited clinical information due to surgical removal of lens in affected individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:limited clinical information provided --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limited clinical information provided | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limited clinical information provided for patients with mks1 mutations (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:limited clinical information provided on patients with bbs7 mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:limited clinical information provided on patients with bbs7 mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:linked to 10q24 trisomy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:linked to 10q24 trisomy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:liver enzymes decrease with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:liver enzymes decrease with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:liver failure episodes associated with fever --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:liver failure episodes associated with fever | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:liver failure episodes cease in later childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:liver failure episodes cease in later childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:liver functions return to normal after 3 to 4 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:liver functions return to normal after 3 to 4 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:liver involvement can range from mild to severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:liver involvement can range from mild to severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:long duration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:long duration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:longer disease duration than creutzfeldt-jakob disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:longer disease duration than creutzfeldt-jakob disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:loss initially affects mid and high frequencies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:loss initially affects mid and high frequencies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:loss of ambulation within 10 years of onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:loss of ambulation within 10 years of onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:loss of independent ambulation due to muscle weakness in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:loss of independent ambulation due to muscle weakness in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:loss of independent walking by teenage years (in some) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:loss of independent walking by teenage years (in some) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:low physical performance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:low physical performance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lower limb involvement precedes upper limb involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lower limb involvement precedes upper limb involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lower limbs more severely affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lower limbs more severely affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:luton and torrance type differentiated based on histologic findings in cartilage --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:luton and torrance type differentiated based on histologic findings in cartilage | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lymphedema occurs in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lymphedema occurs in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lymphedema resolves by age 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lymphedema resolves by age 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lymphedema that presents at puberty is called meige disease (153200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lymphedema that presents at puberty is called meige disease (153200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:macular degeneration only occurs in some patients at very late age (over 70) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:macular degeneration only occurs in some patients at very late age (over 70) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:major fetal plasma protein produced by yolk sac and liver --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:major fetal plasma protein produced by yolk sac and liver | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority are sporadic cases, affected sibs have been described --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority are sporadic cases, affected sibs have been described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority cases are sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority cases are sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of affected individuals are female (85%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of affected individuals are female (85%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of cases are due to de novo mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases are due to de novo mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of cases are secondary to de novo mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases are secondary to de novo mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of cases are sporadic, some autosomal dominant families have been described --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases are sporadic, some autosomal dominant families have been described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of cases from middle eastern countries --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases from middle eastern countries | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of cases have bilateral involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases have bilateral involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of cases in japan --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases in japan | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of cases in manitoba indians, northeastern manitoba, canada --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases in manitoba indians, northeastern manitoba, canada | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of cases in the afrikaner population of south africa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases in the afrikaner population of south africa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of cases occur in brazilian population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of cases occur in brazilian population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of eec cases appear to be secondary to tp63 (603273) mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of eec cases appear to be secondary to tp63 (603273) mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of individuals are healthy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of individuals are healthy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of patients are pyridoxine-responsive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of patients are pyridoxine-responsive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of patients develop symptoms within the first few weeks of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of patients develop symptoms within the first few weeks of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of patients from italy and southwestern united states --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of patients from italy and southwestern united states | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of por deficiency patients have an abs-like phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of por deficiency patients have an abs-like phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of wilms tumors are sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of wilms tumors are sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:majority of wws patients die within the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:majority of wws patients die within the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:male infertility --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male infertility | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:male predominance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male predominance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:male to female ratio 21:8 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male to female ratio 21:8 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:male to female ratio 7:1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male to female ratio 7:1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:male-limited trait --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male-limited trait | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:male-to-female ratio 3 to 1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:male-to-female ratio 3 to 1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:males are more commonly affected than females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males are more commonly affected than females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:males are more severely affected than females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males are more severely affected than females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:males died in neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males died in neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:males more frequently have severe lesions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males more frequently have severe lesions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:males mores severely affected than females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:males mores severely affected than females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:malnutrition can be severe, requiring total parenteral nutrition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:malnutrition can be severe, requiring total parenteral nutrition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:manifestations of cushing syndrome may be mild --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:manifestations of cushing syndrome may be mild | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:manifestations present in second decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:manifestations present in second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many become wheelchair bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many become wheelchair bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many cases are sporadic, but somatic and germline mosaicism has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many cases are sporadic, but somatic and germline mosaicism has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many cases due to de novo mutation or chromosome aberration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many cases due to de novo mutation or chromosome aberration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many cases result from de novo mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many cases result from de novo mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many patients are asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many patients are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many patients become wheelchair-bound by second or third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many patients become wheelchair-bound by second or third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many patients become wheelchair-bound later in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many patients become wheelchair-bound later in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many patients die by 1-3 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many patients die by 1-3 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many patients recover normally --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many patients recover normally | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:marked clinical heterogeneity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked clinical heterogeneity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:marked favorable response to l-dopa treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked favorable response to l-dopa treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:marked phenotypic variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked phenotypic variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked variability in severity of the skin lesions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:marked variability in the deletion size --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked variability in the deletion size | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marshall syndrome is allelic to stickler syndrome, type 2 (604841) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:massive aortic aneurysm can cause airway compression in affected infants --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:massive aortic aneurysm can cause airway compression in affected infants | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:maternal breast milk is protective --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:maternal breast milk is protective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:maternal uniparental disomy (upd)7 reported in some cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:maternal uniparental disomy (upd)7 reported in some cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600)) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be benign condition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be benign condition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be exacerbated by febrile illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be exacerbated by febrile illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be fatal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be fatal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be induced by fever or hot bath --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be induced by fever or hot bath | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be lethal in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be lethal in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be lethal in infancy if untreated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be lethal in infancy if untreated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be present in asymptomatic adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be present in asymptomatic adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be same disorder as autosomal recessive optic atrophy 3 (258501) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be same disorder as autosomal recessive optic atrophy 3 (258501) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be same entity as elejalde syndrome (256710) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be same entity as elejalde syndrome (256710) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be seen with other forms of cancer in a family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be seen with other forms of cancer in a family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be triggered by increased practice --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be triggered by increased practice | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may be x-linked --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may be x-linked | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may coexist with autoimmune vitiligo or thyroiditis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may coexist with autoimmune vitiligo or thyroiditis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may have less severe phenotype than rsts patients with crebbp mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may have less severe phenotype than rsts patients with crebbp mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may manifest as 'ataxic' phenotype without parkinsonian features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may manifest as 'ataxic' phenotype without parkinsonian features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may occur cormorbidly with poland syndrome (173800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may occur cormorbidly with poland syndrome (173800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may or may not be responsive to pyridoxine (vitamin b6) treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may or may not be responsive to pyridoxine (vitamin b6) treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may present in infancy with episodes of severe metabolic decompensation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may present in infancy with episodes of severe metabolic decompensation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may progress to upper limbs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may progress to upper limbs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may regress in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may regress in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may respond to cholinesterase inhibitors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may respond to cholinesterase inhibitors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may respond to cholinesterase inhibitors of amifampridine --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may respond to cholinesterase inhibitors of amifampridine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:may result in early death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:may result in early death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at diagnosis 16 years (range 6 to 22) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at diagnosis 16 years (range 6 to 22) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at diagnosis is 38 years(range 11-63 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at diagnosis is 38 years(range 11-63 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 11.4 years (range 4 to 35) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 11.4 years (range 4 to 35) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 12.5 years (range 2 to 15 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 12.5 years (range 2 to 15 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 16.5 years (range 9 to 35 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 16.5 years (range 9 to 35 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 23.9 years (range 10 to 55 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 23.9 years (range 10 to 55 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 27 years (range 9 to 42) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 27 years (range 9 to 42) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 30.7 years (range 6 to 60 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 30.7 years (range 6 to 60 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 41 years (range 18 to 61) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 41 years (range 18 to 61) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 45 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 45 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 48 years (range 38 to 64) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 48 years (range 38 to 64) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset for variant cjd is 29 years (before age 45 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset for variant cjd is 29 years (before age 45 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset is 10.4 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset is 10.4 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset of bone disease is 40 years (range 23-65) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset of bone disease is 40 years (range 23-65) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at onset of muscle disease is 42 years (range 24-61) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at onset of muscle disease is 42 years (range 24-61) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age at resolution of symptoms 10 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age at resolution of symptoms 10 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of death is 34 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of death is 34 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of diagnosis is 40 years (range 11 to 79 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of diagnosis is 40 years (range 11 to 79 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of diagnosis of uterine leiomyomas is 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of diagnosis of uterine leiomyomas is 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of onset 14-24 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 14-24 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of onset 18 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 18 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of onset 21 years (range 14-35 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 21 years (range 14-35 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of onset 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of onset 30 years (range first to seventh decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 30 years (range first to seventh decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of onset 34 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 34 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of onset 50.2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 50.2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean age of onset 56 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean age of onset 56 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mean duration of symptoms 4.2 plus or minus 2.4 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mean duration of symptoms 4.2 plus or minus 2.4 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mechanical ventilation may be required --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mechanical ventilation may be required | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mecp2 mutations are those found in females with rett syndrome (312750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mecp2 mutations are those found in females with rett syndrome (312750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980)) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980)) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:median age at diagnosis 7 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age at diagnosis 7 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:median age at onset is 21 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age at onset is 21 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:median age of diagnosis - 15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age of diagnosis - 15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:median age of onset of leukoplakia - 7 years (range 1-26 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age of onset of leukoplakia - 7 years (range 1-26 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:median age of onset of pancytopenia - 10 years (range 1-32 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median age of onset of pancytopenia - 10 years (range 1-32 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:median life expectancy, 13.4 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median life expectancy, 13.4 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:median onset of proteinuria is 18 years (range 10 to 21) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:median onset of proteinuria is 18 years (range 10 to 21) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:meiotic origin >95% maternal, mostly meiosis i --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:meiotic origin >95% maternal, mostly meiosis i | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:melnick-needles syndrome (mns, 309350) is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:melnick-needles syndrome (mns, 309350) is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mental retardation likely secondary to neonatal hypoxia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mental retardation likely secondary to neonatal hypoxia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:metabolic decompensation, episodic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:metabolic decompensation, episodic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:metabolic rate^resting:engrat:pt:^patient:qn --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:metabolic rate^resting:engrat:pt:^patient:qn | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:microdeletion is approximately 1.5mb in length --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:microdeletion is approximately 1.5mb in length | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:middle age onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:middle age onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild cases show clinical, biochemical, and mri improvement after the second year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild cases show clinical, biochemical, and mri improvement after the second year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild disease course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild disease course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild expression in heterozygous carriers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild expression in heterozygous carriers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild facial dysmorphism is associated with duplication of the flna gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild facial dysmorphism is associated with duplication of the flna gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild features such as digital clubbing may be apparent in older heterozygotes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild features such as digital clubbing may be apparent in older heterozygotes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild involvement of face and arms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild involvement of face and arms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild manifestations in carrier females (cleft lip, cleft tongue) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild manifestations in carrier females (cleft lip, cleft tongue) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild phenotype onset - 11-18 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild phenotype onset - 11-18 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild symptoms may occur in teenage years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild symptoms may occur in teenage years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mild to severe forms of disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mild to severe forms of disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:milder expression in female heterozygotes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:milder expression in female heterozygotes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mildly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mildly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:minimal response to surfactant treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:minimal response to surfactant treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:minimum duplication includes bhlha9 (615416) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:minimum duplication includes bhlha9 (615416) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mliii is a heterogeneous disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mliii is a heterogeneous disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mode of inheritance is uncertain --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mode of inheritance is uncertain | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mode of inheritance is unclear --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mode of inheritance is unclear | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:moderate age-related improvement of pancreatic function --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:moderate age-related improvement of pancreatic function | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more common in ashkenazi jews --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more common in ashkenazi jews | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more common in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more common in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more common in females (male:female ratio 4:1) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more common in females (male:female ratio 4:1) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more common in males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more common in males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more common in men (9:1 male:female ratio) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more common in men (9:1 male:female ratio) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more common in men than women --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more common in men than women | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more common in women --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more common in women | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more common in women (90%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more common in women (90%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more commonly observed in women --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more commonly observed in women | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more frequent in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more frequent in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more frequent in individuals of asian descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more frequent in individuals of asian descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more frequent in males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more frequent in males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more prevalent in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more prevalent in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more severe in males than in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more severe in males than in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:more than half of patients develop retinal detachments and/or retinoschisis later in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:more than half of patients develop retinal detachments and/or retinoschisis later in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:moroccan jewish and ashkenazi jewish families have been described --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:moroccan jewish and ashkenazi jewish families have been described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mortality approximately 20% in first 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mortality approximately 20% in first 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mortality, premature --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mortality, premature | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mosaic distribution of lesions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mosaic distribution of lesions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most (80 to 90%) of cases result from deletions of the sts gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most (80 to 90%) of cases result from deletions of the sts gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most affected infants die in the first month of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most affected infants die in the first month of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most affected infants die shortly after birth from respiratory failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most affected infants die shortly after birth from respiratory failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most affected males die of respiratory failure within the first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most affected males die of respiratory failure within the first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most affected patients die in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most affected patients die in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most become wheelchair-bound late in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most become wheelchair-bound late in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most carrier females have mild mental retardation and subtle facial changes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most carrier females have mild mental retardation and subtle facial changes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most case are sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most case are sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases are autosomal dominant, recessive inheritance has rarely been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases are autosomal dominant, recessive inheritance has rarely been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases are caused by mutation in the phox2b gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases are caused by mutation in the phox2b gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases are isolated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases are isolated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases are responsive to steroids --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases are responsive to steroids | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases do not have mutations in the mapt gene, but map to chromosome 17q --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases do not have mutations in the mapt gene, but map to chromosome 17q | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases due to de novo mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases due to de novo mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases occur de novo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases occur de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases result from a de novo mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases result from a de novo mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases result from de novo mutation or deletion of rai1 (607642) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases result from de novo mutation or deletion of rai1 (607642) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases result from de novo mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases result from de novo mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most cases sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most cases sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most children become wheelchair-bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most children become wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common age of clinical onset ranges from 16 to 33 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common age of clinical onset ranges from 16 to 33 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common cancer in men aged 15-40 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common cancer in men aged 15-40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common disorder of fatty acid oxidation (1/13,000 births) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common disorder of fatty acid oxidation (1/13,000 births) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common episodic ataxia syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common episodic ataxia syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common form of bowel obstruction in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common form of bowel obstruction in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common form of childhood idiopathic epilepsy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common form of childhood idiopathic epilepsy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common form of congenital methemoglobinemia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common form of congenital methemoglobinemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common form of inherited, congenital hydrocephalus --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common form of inherited, congenital hydrocephalus | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common form of porphyria --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common form of porphyria | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common inherited ataxia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common inherited ataxia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common inherited bleeding disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common inherited bleeding disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common inherited giant platelet disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common inherited giant platelet disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common muscle disease of older persons --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common muscle disease of older persons | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common mutation is leu276ile (606596.0004) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common mutation is leu276ile (606596.0004) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common subtype of frontotemporal dementia (600274) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common subtype of frontotemporal dementia (600274) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most common terminal deletion syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most common terminal deletion syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most frequently affected joints - hands (98%) and feet (88%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most frequently affected joints - hands (98%) and feet (88%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most have onset in first or second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most have onset in first or second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most have resolution of symptoms between 6 and 12 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most have resolution of symptoms between 6 and 12 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most individuals are asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most individuals are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most individuals are wheelchair-bound or bedridden by adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most individuals are wheelchair-bound or bedridden by adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most mutations occur de novo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most mutations occur de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients appear unaffected in the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients appear unaffected in the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients are asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients are asymptomatic and are detected by newborn screening --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients are asymptomatic and are detected by newborn screening | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients are clinically asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients are clinically asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients are clinically asymptomatic and show normal development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients are clinically asymptomatic and show normal development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients are female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients are female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients are from finland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients are from finland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients are severely affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients are severely affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients are stillborn or die in immediate neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients are stillborn or die in immediate neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients become seizure-free by age 3 or 4 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients become seizure-free by age 3 or 4 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients become wheelchair-bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients become wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients become wheelchair-bound after 20 to 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients become wheelchair-bound after 20 to 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients become wheelchair-bound in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients become wheelchair-bound in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients become wheelchair-bound in adolescence or as young adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients become wheelchair-bound in adolescence or as young adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients become wheelchair-bound in later childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients become wheelchair-bound in later childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients become wheelchair-bound in the second to fourth decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients become wheelchair-bound in the second to fourth decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die from heart failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die from heart failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die in first years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die in first years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die in the first days of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die in the first days of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die in the first months or years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die in the first months or years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die in the neonatal period due to respiratory insufficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die in the neonatal period due to respiratory insufficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die of hepatic failure by 9 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die of hepatic failure by 9 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die of renal failure in early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die of renal failure in early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients die within the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients die within the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients do not learn to sit or walk --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients do not learn to sit or walk | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients have a family history of fragile x syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients have a family history of fragile x syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients have adult onset of symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients have adult onset of symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients have contiguous gene deletion syndrome involving xp22 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients have contiguous gene deletion syndrome involving xp22 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients have de novo mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients have de novo mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients have no bleeding abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients have no bleeding abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients have severe streptococcus pneumoniae infections --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients have severe streptococcus pneumoniae infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients lose ambulation 2 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients lose ambulation 2 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients need assistance walking or are wheelchair-bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients need assistance walking or are wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients need hip replacement by their mid-thirties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients need hip replacement by their mid-thirties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients present in infancy with anemia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients present in infancy with anemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients remain ambulatory --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients remain ambulatory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients remain ambulatory in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients remain ambulatory in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients require liver transplant in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients require liver transplant in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients require liver transplantation within the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients require liver transplantation within the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients require renal transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients require renal transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients retain ambulation with aids --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients retain ambulation with aids | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most patients show early childhood onset after a period of normal development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most patients show early childhood onset after a period of normal development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most pregnancies with affected fetuses resulted in elective termination --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most pregnancies with affected fetuses resulted in elective termination | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most remit by 2 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most remit by 2 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most remit by 6 weeks (1-6 months) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most remit by 6 weeks (1-6 months) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most reported cases come from the island of mauritius or nearby islands --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most reported cases come from the island of mauritius or nearby islands | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most retain independent ambulation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most retain independent ambulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most severe form of gaucher disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most severe form of gaucher disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most severe type of von willebrand disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most severe type of von willebrand disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:most types show autosomal dominant inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:most types show autosomal dominant inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mother had rubella infection during pregnancy with daughter --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mother had rubella infection during pregnancy with daughter | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mother who carries the mutation is clinically unaffected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mother who carries the mutation is clinically unaffected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:motor delay --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:motor delay | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:motor fluctuations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:motor fluctuations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:motor impairment more significant than sensory impairment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:motor impairment more significant than sensory impairment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:motor neuropathy more prominent than sensory neuropathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:motor neuropathy more prominent than sensory neuropathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:motor skills less affected than cognitive skills --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:motor skills less affected than cognitive skills | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:motor symptoms are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:motor symptoms are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:motor symptoms develop later (about 5 years into illness) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:motor symptoms develop later (about 5 years into illness) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:motor symptoms show mild clinical improvement with levodopa treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:motor symptoms show mild clinical improvement with levodopa treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mousy odor --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mousy odor | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:movements worsened by anxiety --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:movements worsened by anxiety | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mucocutaneous immunodeficiency syndrome may be prominent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mucocutaneous immunodeficiency syndrome may be prominent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mucopolysaccharidosis type iiid --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mucopolysaccharidosis type iiid | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mulibrey is an acronym (muscle, liver, brain, and eyes) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mulibrey is an acronym (muscle, liver, brain, and eyes) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:multiorgan failure may result from hs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:multiorgan failure may result from hs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:multiple congenital anomalies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:multiple congenital anomalies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:multiple gene loci involved in causation of schizophrenia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:multiple gene loci involved in causation of schizophrenia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:multiple lesions in familial cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:multiple lesions in familial cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:multiple seizures daily at onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:multiple seizures daily at onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:multiple spontaneous abortions in obligate carriers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:multiple spontaneous abortions in obligate carriers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:multisystem decompensation in response to viral infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:multisystem decompensation in response to viral infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:murcs association --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:murcs association | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:muscle contractions in infancy occur in response to tactile stimulation or crying --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:muscle contractions in infancy occur in response to tactile stimulation or crying | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:muscle involvement shows onset at birth or in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:muscle involvement shows onset at birth or in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:muscle symptoms precede cardiac symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:muscle symptoms precede cardiac symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:muscle weakness increases with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:muscle weakness increases with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:muscle weakness occurs only in the presence of hyperthyroidism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:muscle weakness occurs only in the presence of hyperthyroidism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutant alleles have 47 to 63 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutant alleles have 47 to 63 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation carriers may show toxicity to 5-fluorouracil (5fu) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation carriers may show toxicity to 5-fluorouracil (5fu) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation found in 1 puerto rican family (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation found in 1 puerto rican family (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation in npr2 results in gain-of-function --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation in npr2 results in gain-of-function | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation in rp9 gene in family (607331.0001) likely not pathogenic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation in rp9 gene in family (607331.0001) likely not pathogenic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation in the hcrt gene has been identified in 1 patient --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation in the hcrt gene has been identified in 1 patient | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutations are frequently maternally inherited --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutations are frequently maternally inherited | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutations have been identified in spanish families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutations have been identified in spanish families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutations occur de novo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutations occur de novo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutations result in inactivation of nkx3-2 (602183) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutations result in inactivation of nkx3-2 (602183) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:mutations show partial penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:mutations show partial penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:myoclonic seizures occur on awakening or within 2 hours of awakening --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:myoclonic seizures occur on awakening or within 2 hours of awakening | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:myoclonus is presenting symptom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:myoclonus is presenting symptom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:myoclonus occurs at rest and with action --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:myoclonus occurs at rest and with action | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:n-myc oncogene (164840) amplification is associated with poor prognosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:n-myc oncogene (164840) amplification is associated with poor prognosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nail changes may be intermittent in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nail changes may be intermittent in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nails appear normal at birth, with dystrophic changes developing within the first decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nails appear normal at birth, with dystrophic changes developing within the first decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nails may be intermittently involved --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nails may be intermittently involved | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nails, palms, and soles are spared in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nails, palms, and soles are spared in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:narcolepsy and deafness are the first symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:narcolepsy and deafness are the first symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:natural aversion to carbohydrates --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:natural aversion to carbohydrates | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:natural aversion to carbohydrates and favoring of protein --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:natural aversion to carbohydrates and favoring of protein | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:near-normoglycemic remission for period of months to years without insulin treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:near-normoglycemic remission for period of months to years without insulin treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nearly 100% penetrance by 60 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nearly 100% penetrance by 60 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neonatal and late-infantile onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal and late-infantile onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neonatal death secondary to pulmonary insufficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal death secondary to pulmonary insufficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neonatal lethal due to respiratory insufficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal lethal due to respiratory insufficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neonatal onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neonatal onset of nephrotic syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal onset of nephrotic syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neonatal or infant death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal or infant death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neonatal severe hyperparathyroidism in homozygotes (239200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal severe hyperparathyroidism in homozygotes (239200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neonatal/infantile death in most patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neonatal/infantile death in most patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neuroendocrine recovery occurs in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neuroendocrine recovery occurs in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic deterioration is severe after age 2 to 2.5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic deterioration is severe after age 2 to 2.5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic dysfunction is infrequent and associated with delayed diagnosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic dysfunction is infrequent and associated with delayed diagnosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic features are variable and not progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic features are variable and not progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic features have been diagnosed in ~30% of cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic features have been diagnosed in ~30% of cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic features occur in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic features occur in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic features occur later in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic features occur later in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic findings closely resemble those of huntington disease (hd, 143100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic findings closely resemble those of huntington disease (hd, 143100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic involvement may occur in the absence of visceral involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic involvement may occur in the absence of visceral involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic signs are present in the neonatal period only --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic signs are present in the neonatal period only | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic signs last hours to days --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic signs last hours to days | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic signs may not be present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic signs may not be present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic signs onset during adolescence or young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic signs onset during adolescence or young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic symptoms are not always present or may appear late --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic symptoms are not always present or may appear late | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic symptoms are progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic symptoms are progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic symptoms may develop decades later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic symptoms may develop decades later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurologic symptoms may occur after trauma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurologic symptoms may occur after trauma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neuromuscular forms can present as perinate, infant, child, or adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neuromuscular forms can present as perinate, infant, child, or adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neuromuscular, cardiovascular, and infectious symptoms improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neuromuscular, cardiovascular, and infectious symptoms improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neuropathic, cardiac, leptomeningeal, and ocular predominance may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neuropathy becomes apparent in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neuropathy becomes apparent in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neuropsychiatric manifestations are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neuropsychiatric manifestations are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:new skin lesions stop appearing before adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:new skin lesions stop appearing before adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:newborn period is critical for survival --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:newborn period is critical for survival | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:night blindness from early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:night blindness from early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nine patients have been reported in detail (as of 14 june 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nine patients have been reported in detail (as of 14 june 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ninety percent of cases are female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ninety percent of cases are female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no abdominal symptoms or neurologic symptoms in harderoporphyria --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no abdominal symptoms or neurologic symptoms in harderoporphyria | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no abnormalities of hair, teeth, or bones --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no abnormalities of hair, teeth, or bones | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no abnormalities of skin, hair, teeth, or bones --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no abnormalities of skin, hair, teeth, or bones | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no cardiac or immune defects in patients from the 2 reported families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no cardiac or immune defects in patients from the 2 reported families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no chronic or permanent liver damage --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no chronic or permanent liver damage | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no clinical description given for 1 reported patient (last curated december 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no clinical description given for 1 reported patient (last curated december 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no clinical details provided by the authors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no clinical details provided by the authors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no clinical manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no clinical manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no clinical manifestations were noted (incidental laboratory finding) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no clinical manifestations were noted (incidental laboratory finding) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no congenital form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no congenital form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no consistent disease phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no consistent disease phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no dysmorphic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no dysmorphic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no family history of --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no family history of | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no family history, de novo mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no family history, de novo mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no features consistent with cystic fibrosis found in these patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no features consistent with cystic fibrosis found in these patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no history of familial hypercholesterolemia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no history of familial hypercholesterolemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no increased fragility of hair --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no increased fragility of hair | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no laterality defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no laterality defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no male-to-male transmission --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no male-to-male transmission | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no mutations reported in la reunion island patients (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no mutations reported in la reunion island patients (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no neurologic sequelae --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no neurologic sequelae | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no opportunistic infections --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no opportunistic infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no peripheral signs of hypothyroidism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no peripheral signs of hypothyroidism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no phenotype in heterozygotes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no phenotype in heterozygotes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no phenotypic manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no phenotypic manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no preceding skin inflammatory stage --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no preceding skin inflammatory stage | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no predisposition to skin tumor development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no predisposition to skin tumor development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no recurrence of nephrotic syndrome after transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no recurrence of nephrotic syndrome after transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no response or worsening with acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no response or worsening with acetylcholinesterase inhibitors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no response to phenobarbital --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no response to phenobarbital | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no skeletal abnormalities in odontohypophosphatasia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no skeletal abnormalities in odontohypophosphatasia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no skin abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no skin abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:no systemic manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:no systemic manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:non-progressive and more severe progressive forms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:non-progressive and more severe progressive forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:non-progressive or very slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:non-progressive or very slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:non-tender --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:non-tender | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonpenetrance has been observed --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonpenetrance has been observed | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonprogressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonprogressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonprogressive hepatic form is less frequent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonprogressive hepatic form is less frequent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonprogressive in most patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonprogressive in most patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonprogressive or slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonprogressive or slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonprogressive or very slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonprogressive or very slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonreflex epilepsy may occur later in 16 to 38% of patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonreflex epilepsy may occur later in 16 to 38% of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonspecific subtle dysmorphic facial features may be present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonspecific subtle dysmorphic facial features may be present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonsyndromic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonsyndromic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nonsyndromic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nonsyndromic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal ability to tolerate heat --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal ability to tolerate heat | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal alleles contain 15 to 50 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal alleles contain 15 to 50 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal alleles contain 6 to 28 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal alleles contain 6 to 28 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal alleles contain up to 30 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal alleles contain up to 30 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal alleles contain up to 44 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal alleles contain up to 44 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal alleles have 25 to 44 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal alleles have 25 to 44 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal alleles have 4 to 18 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal alleles have 4 to 18 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal birth (finding) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal birth (finding) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal cag repeat length is 7 to 32 triplets --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal cag repeat length is 7 to 32 triplets | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal development before onset of seizures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal development before onset of seizures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal development between episodes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal development between episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal development until onset of seizures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal development until onset of seizures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal female secondary sexual characteristics --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal female secondary sexual characteristics | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal fertility --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal fertility | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal first month --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal first month | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal growth and development after 1 year of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal growth and development after 1 year of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal in neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal in neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal intelligence in majority --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal intelligence in majority | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal neonatal blood phenylalanine has been reported in rare patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal neonatal blood phenylalanine has been reported in rare patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal neonatal course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal neonatal course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal range of expanded repeats 9-29, hd range 36-121 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal range of expanded repeats 9-29, hd range 36-121 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal sclerae and teeth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal sclerae and teeth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal sialophorin gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal sialophorin gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:normal sweat electrolytes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:normal sweat electrolytes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:not all nails are affected in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:not all nails are affected in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:not all patients have a myopathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:not all patients have a myopathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:not all patients have all features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:not all patients have all features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:not all patients have dysmorphic facial features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:not all patients have dysmorphic facial features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:not all patients have facial dysmorphism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:not all patients have facial dysmorphism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:not all patients have renal involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:not all patients have renal involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:not all patients have skeletal muscle symptoms or mental retardation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:not all patients have skeletal muscle symptoms or mental retardation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:not responsive to biotin treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:not responsive to biotin treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:not responsive to steroid treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:not responsive to steroid treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:noted in early childhood in most patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:noted in early childhood in most patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nphp shows autosomal recessive inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nphp shows autosomal recessive inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:number of episodes varies from 1 to many (up to 20) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:number of episodes varies from 1 to many (up to 20) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nyctalopia is a later feature of the disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nyctalopia is a later feature of the disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nystagmus is often the presenting sign --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nystagmus is often the presenting sign | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:nystagmus may disappear by mid-childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:nystagmus may disappear by mid-childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:obligate female carriers may show mild signs of muscle weakness, especially of the face --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:obligate female carriers may show mild signs of muscle weakness, especially of the face | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:obligatory heterozygotes are clinically unaffected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:obligatory heterozygotes are clinically unaffected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:observed in individuals of bulgarian roma bowlmaker ethnic group --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:observed in individuals of bulgarian roma bowlmaker ethnic group | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occasional adult onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occasional adult onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occasionally low-dose insulin required --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occasionally low-dose insulin required | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs at age 20-50 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs at age 20-50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs during pregnancy, most often in the third trimester --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs during pregnancy, most often in the third trimester | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs in 1 in 50,000 newborn males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in 1 in 50,000 newborn males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs in 2-5 per 10,000 individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in 2-5 per 10,000 individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs in about 1 in 10,000 births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in about 1 in 10,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs in full-term infants --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in full-term infants | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs in full-term newborns --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in full-term newborns | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs in the absence of trauma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in the absence of trauma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs in women and is triggered by pregnancy or estrogen therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in women and is triggered by pregnancy or estrogen therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs in ~3% pregnancies in western populations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs in ~3% pregnancies in western populations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs more frequently in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs more frequently in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs most often among black africans --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs most often among black africans | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs most often between 5 and 15 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs most often between 5 and 15 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs most often in developing countries in tropical regions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs most often in developing countries in tropical regions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs much more commonly in women --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs much more commonly in women | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:occurs on right side in 75% of cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:occurs on right side in 75% of cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ocular abnormalities may be very mild --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ocular abnormalities may be very mild | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:oculomotor apraxia is not always present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:oculomotor apraxia is not always present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:odor of 'sweaty feet' --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:odor of 'sweaty feet' | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often associated with chiari type i malformation (cm1, 118420) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often associated with chiari type i malformation (cm1, 118420) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often associated with klippel-feil anomaly (118100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often associated with klippel-feil anomaly (118100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often associated with syringomyelia (186700) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often associated with syringomyelia (186700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often confused with tuberous sclerosis (191000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often confused with tuberous sclerosis (191000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often diagnosed between ages 3-4 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often diagnosed between ages 3-4 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often fatal due in infancy due to intractable diarrhea --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often fatal due in infancy due to intractable diarrhea | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often fatal in utero --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often fatal in utero | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often identified in newborn period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often identified in newborn period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often lethal in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often lethal in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often presents with cranial or cervical involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often presents with cranial or cervical involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often reared as females until puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often reared as females until puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often refractory to medical therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often refractory to medical therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often results in death in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often results in death in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:often unilateral involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:often unilateral involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:old order amish, african american, and french patients have been described --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:old order amish, african american, and french patients have been described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:older individuals had moderate to severe hearing loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:older individuals had moderate to severe hearing loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:older patients become wheelchair-dependent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:older patients become wheelchair-dependent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one 3-generation danish family reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one 3-generation danish family reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one 3-generation italian family has been described (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one 3-generation italian family has been described (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one 3-generation korean family and one father daughter have been reported (last curated august 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one 4-generation chinese family has been reported (as of 04/2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one 4-generation chinese family has been reported (as of 04/2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one 5-generation chinese family reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one 5-generation chinese family reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one 9-generation family and 1 isolated patient described (last curated march 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one 9-generation family and 1 isolated patient described (last curated march 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one amish family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one amish family has been reported (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one boy and 5 unrelated girls have been reported (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one boy and 5 unrelated girls have been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one brazilian family with 12 affected individuals reported (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one brazilian family with 12 affected individuals reported (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one canadian mennonite family has been reported (last curated november 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one canadian mennonite family has been reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one chinese family and 1 unrelated patient have been reported (last curated april 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one chinese family has been reported (as of august 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one chinese family has been reported (as of august 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one chinese family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one chinese family has been reported (last curated october 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one chinese family with 14 affected individuals has been described (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one chinese family with 14 affected individuals has been described (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one chinese family with a confirmed mutation has been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one chinese family with a confirmed mutation has been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one compound heterozygous patient reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one compound heterozygous patient reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous algerian family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous algerian family has been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous arab family has been reported (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous arab family has been reported (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous arab family has been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous arab family has been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous arab israeli family has been reported (last curated february, 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous arab israeli family has been reported (last curated february, 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous costa rican family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous costa rican family has been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family has been reported (last curated december 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family has been reported (last curated december 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family has been reported (last curated june 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family has been reported (last curated june 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family has been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family has been reported (last curated may 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family has been reported (last curated may 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family has been reported (last curated may 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family has been reported (last curated may 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family has been reported (last curated november 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family has been reported (last curated november 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family of indian descent has been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family of indian descent has been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family with a recessive mutation has been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous italian family has been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous italian family has been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous moroccan family has been reported (as of january 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous moroccan family has been reported (as of january 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family has been described (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family has been described (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family has been reported (as of january 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family has been reported (as of january 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family has been reported (last curated june 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family has been reported (last curated june 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family has been reported (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family has been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family has been reported (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family has been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family has been reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family has been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family has been reported (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family has been reported (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani family reported (last curated august 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani family reported (last curated august 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani has been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani has been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous pakistani reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous pakistani reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous saudi arabian family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous saudi arabian family has been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous saudi family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous saudi family has been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous senegalese family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous senegalese family has been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous tunisian family has been reported (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous tunisian family has been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous turkish family has been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous turkish family has been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous turkish family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous turkish family has been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous turkish family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous turkish family has been reported (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous turkish family has been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous turkish family has been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous turkish family has been reported (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous turkish family has been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one consanguineous turkish family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one consanguineous turkish family has been reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family (4 affected members) has been reported (last curated july 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family (4 affected members) has been reported (last curated july 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family and 1 unrelated patient have been reported (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family and 1 unrelated patient have been reported (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family and 1 unrelated patient have been reported (last curated january 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family and 1 unrelated patient have been reported (last curated january 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family and 1 unrelated patient have been reported (last curated july 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family and 1 unrelated patient have been reported (last curated july 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family and an unrelated patient have been reported (last curated january 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family and an unrelated patient have been reported (last curated january 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family and an unrelated patient have been reported (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family and an unrelated patient have been reported (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family described (last curated october 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family described (last curated october 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family from hong kong has been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family from hong kong has been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family from punjab, india has been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family from punjab, india has been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family from the old order amish has been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family from the old order amish has been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family had normal cognitive and neurologic development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family had normal cognitive and neurologic development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been described (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been described (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of 4/2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of 4/2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of april 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of april 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of august 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of august 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of curation date may, 2013) onset in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of curation date may, 2013) onset in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of january 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of january 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of january 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of january 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of july 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of july 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of june 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of june 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of october 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of october 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (as of september 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (as of september 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated august 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated august 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated december 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated december 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated december 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated december 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated january 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated january 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated january 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated january 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated january 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated january 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated june 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated june 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated june 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated june 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated march 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated march 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated may 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated may 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated november 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated october 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated october 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated october 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported (last curated september 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported and no additional clinical features were provided (last curated june 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported and no additional clinical features were provided (last curated june 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family has been reported with limited clinical information (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family has been reported with limited clinical information (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family of algerian descent has been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family of algerian descent has been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family of french-canadian origin has been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family of french-canadian origin has been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family of french-canadian origin has been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family of french-canadian origin has been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family of irish traveller descent described (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family of irish traveller descent described (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family of italian-american descent has been described --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family of italian-american descent has been described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family of mali origin has been reported (last curated january 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family of mali origin has been reported (last curated january 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family of puerto rican descent has been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family of puerto rican descent has been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family of sicilian origin has been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family of sicilian origin has been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported (as of may 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported (as of may 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported (as of november 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported (as of november 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported (last curated january 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported (last curated january 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported (last curated july 2008) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported (last curated july 2008) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported (last curated june 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported (last curated june 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported (last curated may 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported (last curated may 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported (last curated november 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported (last curated november 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family reported with piezo2 mutation (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family reported with piezo2 mutation (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 2 affected brothers has been reported (last curated november 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 2 affected brothers has been reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 2 affected fetuses has been reported (as of august 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 2 affected fetuses has been reported (as of august 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 2 sisters have been reported (as of march 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 2 sisters have been reported (as of march 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 3 affected girls has been reported (as of october 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 3 affected girls has been reported (as of october 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 3 affected individuals has been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 3 affected individuals has been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 3 affected males has been reported (as of october 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 3 affected males has been reported (as of october 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 4 affected sibs has been reported (as of april 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 4 affected sibs has been reported (as of april 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 5 affected members has been reported (last curated september 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 5 affected members has been reported (last curated september 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with 6 probands described (as of september 2000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with 6 probands described (as of september 2000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with a cacna1b mutation has been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with a cacna1b mutation has been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with a fatal subacute encephalopathy has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with a fatal subacute encephalopathy has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with autosomal dominant inheritance had only progressive bone marrow failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with autosomal dominant inheritance had only progressive bone marrow failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with confirmed cecr1 mutation has been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with confirmed genetic basis has been reported (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with confirmed genetic basis has been reported (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one french family has been reported (as of march 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one french family has been reported (as of march 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one french family has been reported (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one french family has been reported (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one french family has been reported (last curated march 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one french family has been reported (last curated march 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one german family has been reported (as of september 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one german family has been reported (as of september 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one han chinese family and one german family have been described (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one han chinese family and one german family have been described (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one indian family has been reported (as of october 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one indian family has been reported (as of october 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation. | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one israeli arab family has been reported with ptprf mutation (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one italian family has been described (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one italian family has been described (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one italian family has been reported (last curated july 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one italian family has been reported (last curated july 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one japanese family has been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one japanese family has been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one japanese patient has been reported (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one japanese patient has been reported (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one korean family has been reported (as of november 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one korean family has been reported (as of november 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large 3-generation irish family has been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large 3-generation irish family has been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large 4-generation uruguayan family reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large 4-generation uruguayan family reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large consanguineous arab muslim family has been reported (as of september 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large consanguineous arab muslim family has been reported (as of september 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large family has been reported (as of 2008) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large family has been reported (as of 2008) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large family has been reported (last curated june 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large family has been reported (last curated june 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large italian kindred has been reported (last curated november 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large italian kindred has been reported (last curated november 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one large swedish family has been reported (as of april 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one large swedish family has been reported (as of april 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one likely consanguineous turkish family has been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one likely consanguineous turkish family has been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one male patient has been reported (last curated september 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one male patient has been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one of the 2 most common forms of albinism in the world, along with oca2 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one of the 2 most common forms of albinism in the world, along with oca2 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one of the 2 most common forms of oca in the world along with oca1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one of the 2 most common forms of oca in the world along with oca1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one of the most common autoimmune diseases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one of the most common autoimmune diseases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one pakistani family has been reported (last curated october 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one pakistani family has been reported (last curated october 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one pakistani family has been reported (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one pakistani family has been reported (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one pakistani family reported (last curated november 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one pakistani family reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one pakistani reported (last curated november 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one pakistani reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one palestinian family and one lebanese family have been described (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one palestinian family and one lebanese family have been described (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient (patient a) and 2 sibs have been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient died at 17 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient died at 17 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient died at age 7 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient died at age 7 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient had onset at age 4 months after normal development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient had onset at age 4 months after normal development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient had onset at birth and a more severe disorder resulting in death at a young age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient had onset at birth and a more severe disorder resulting in death at a young age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been described (last curated january 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been described (last curated january 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (as of april 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (as of april 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (as of august 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (as of august 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (as of curation date may, 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (as of curation date may, 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (as of december 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (as of december 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (as of july 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (as of july 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (as of march 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (as of march 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (as of may 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (as of may 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (as of sept 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (as of sept 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated january 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated january 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated january 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated january 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated july 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated july 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated july 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated july 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated may 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated may 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated may 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated may 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated november 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated november 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has been reported (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has been reported (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient reported (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient reported (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient reported with col3a1 mutation (120180.0020) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient reported with col3a1 mutation (120180.0020) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient reported with slitrk1 mutation (as of january 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient reported with slitrk1 mutation (as of january 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient showed improvement and was thriving at 46 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient showed improvement and was thriving at 46 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient studied at molecular level (as of july 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient studied at molecular level (as of july 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient was asymptomatic and detected by neonatal screening --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient was asymptomatic and detected by neonatal screening | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient was less severely affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient was less severely affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with a de novo mutation has been reported (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with a de novo mutation has been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with a homozygous mutation has been reported (as of 14 june 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with a homozygous mutation has been reported (as of 14 june 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with additional features of fanconi anemia has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with additional features of fanconi anemia has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with episodic ataxia and later onset has been reported (as of june 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with episodic ataxia and later onset has been reported (as of june 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with limited clinical information has been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with limited clinical information has been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with normal cognition has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with normal cognition has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with normal psychomotor development has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with normal psychomotor development has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with normal psychomotor development has been reported (last curated december 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with normal psychomotor development has been reported (last curated december 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with severe congenital onset has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with severe congenital onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one patient with unrelated german parents has been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one patient with unrelated german parents has been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one report of a large italian family from sardinia (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one report of a large italian family from sardinia (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one report of brother and sister from nonconsanguineous parents --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one report of brother and sister from nonconsanguineous parents | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one report of mother and son (last curated august 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one report of mother and son (last curated august 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one six-generation family from northern china has been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one six-generation family from northern china has been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one spanish family has been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one spanish family has been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one spanish family has been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one spanish family has been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one swedish patient has been reported (last curated november 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one swedish patient has been reported (last curated november 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one swiss family with 19 affected individuals has been described (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one swiss family with 19 affected individuals has been described (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one third of patients represent new mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one third of patients represent new mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one turkish girl has been reported (last curated april 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one turkish girl has been reported (last curated april 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one-third of cases are familial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one-third of cases are familial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:one-third of cases are sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:one-third of cases are sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:only 10% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:only 10% develop hypertension at 18 years of age or less | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:only 13% develop hypertension at 18 years of age or less --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:only 13% develop hypertension at 18 years of age or less | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:only 46,xy individuals are affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:only 46,xy individuals are affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:only apparent in patients taking eculizumab --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:only apparent in patients taking eculizumab | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:only female patients reported (last curated october 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:only female patients reported (last curated october 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:only individuals homozygous for risk or non-risk alleles were studied --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:only individuals homozygous for risk or non-risk alleles were studied | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:only some patients showed neurologic involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:only some patients showed neurologic involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:only women have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:only women have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset - present at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset - present at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 0-12 hours after birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 0-12 hours after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 1-12 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 1-12 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 1-70 years of age (95% by early 50's) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 1-70 years of age (95% by early 50's) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 10-20 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 10-20 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 13 to 63 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 13 to 63 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 13-15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 13-15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 14 months to 4 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 14 months to 4 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 2-4 years of age in iia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 2-4 years of age in iia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 20-55 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 20-55 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 23 to 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 23 to 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 3 months of age up to 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 3 months of age up to 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 30-40 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 30-40 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 3rd to 4th decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 3rd to 4th decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 5 to 10 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 5 to 10 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 5 to 7 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 5 to 7 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 5-30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 5-30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 50 to 65 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 50 to 65 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 6 months to 2.5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 6 months to 2.5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 6 to 12 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 6 to 12 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 6 to 18 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 6 to 18 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 6 to 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 6 to 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 6-13 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 6-13 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 7 to 15 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 7 to 15 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 70-90 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 70-90 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset 8-20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset 8-20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset <30 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset <30 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset about 6 months of age after normal growth and development in the first few months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset about 6 months of age after normal growth and development in the first few months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset after age 20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset after age 20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset after age 40 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset after age 40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset after puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset after puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset after third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset after third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset age 14-28 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset age 14-28 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset age 15-25 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset age 15-25 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset age 2 to 7 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset age 2 to 7 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset age 20 to 51 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset age 20 to 51 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset age 32 to 45 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset age 32 to 45 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset ages 2 to 14 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset ages 2 to 14 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset and diagnosis may occur later (after age 20 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset and diagnosis may occur later (after age 20 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset around adolescence in males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset around adolescence in males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset around age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset around age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset around puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset around puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset as neonate --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset as neonate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at 2 to 15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at 2 to 15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at 2 to 4 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at 2 to 4 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at 4 to 10 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at 4 to 10 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at 4 to 7 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at 4 to 7 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at 4 to 9 weeks of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at 4 to 9 weeks of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at 4 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at 4 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at 5-24 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at 5-24 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at 6-36 hours of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at 6-36 hours of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at 6-9 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at 6-9 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at age 10 to 14 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at age 10 to 14 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at age 3-5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at age 3-5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at age 36 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at age 36 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at age 5 to 15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at age 5 to 15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at age 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at age 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at birth or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at birth or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at birth or early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at birth or early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at birth or in first days or life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at birth or in first days or life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at birth or in first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at birth or in first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at day 1 of life has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at day 1 of life has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at early age, associated with sudden death in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at early age, associated with sudden death in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset at or soon after birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset at or soon after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before 10 years of age in all patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before 10 years of age in all patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before 18 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before 18 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before 50 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before 50 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before age 20 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before age 20 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before age 20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before age 20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before age 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before age 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before age 40 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before age 40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before age 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before age 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset before age 5 years in the absence of instruction --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset before age 5 years in the absence of instruction | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 1-3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 1-3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 10 and 20 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 10 and 20 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 12 and 30 years (average 22) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 12 and 30 years (average 22) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 13 to 37 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 13 to 37 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 15 and 27 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 15 and 27 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 18 and 65 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 18 and 65 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 2 and 4 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 2 and 4 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 2 to 20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 2 to 20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 2-5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 2-5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 28 and 42 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 28 and 42 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 28-32 weeks of gestation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 28-32 weeks of gestation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 3 and 11 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 3 and 11 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 3 and 6 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 3 and 6 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 3 and 8 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 3 and 8 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 34 and 51 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 34 and 51 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 35-43 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 35-43 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 5 and 20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 5 and 20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 5 to 28 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 5 to 28 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 6 and 12 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 6 and 12 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 6 and 14 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 6 and 14 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 6 and 15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 6 and 15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 6 and 16 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 6 and 16 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 6 and 9 months after normal early development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 6 and 9 months after normal early development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 7 and 18 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 7 and 18 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 7 and 27 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 7 and 27 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 8 and 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 8 and 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between 9 and 16 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between 9 and 16 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between age 2 and 15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between age 2 and 15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between age 30-50 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between age 30-50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between age 4 to 7 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between age 4 to 7 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between ages 1 to 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between ages 1 to 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between ages 10 and 25 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between ages 10 and 25 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between ages 12 and 20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between ages 12 and 20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between ages 16-55 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between ages 16-55 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between ages 2 and 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between ages 2 and 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between ages 5 and 15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between ages 5 and 15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between birth and 3 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between birth and 3 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between second to sixth decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between second to sixth decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset between the second and sixth decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset between the second and sixth decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset beyond the second year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset beyond the second year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset bimodal, ages 16-22 and ages 57-60 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset bimodal, ages 16-22 and ages 57-60 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset birth to 6 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset birth to 6 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset birth to early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset birth to early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset birth to early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset birth to early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset by 1 year of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset by 1 year of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset by 3 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset by 3 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset day of life 1-10 in infants fed lactose-containing milk --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset day of life 1-10 in infants fed lactose-containing milk | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset during childhood (8-10 years of age) progressing to profound deafness by ~50 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset early in first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset early in first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset first to seventh decade with 30 to 40 year mode --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset first to seventh decade with 30 to 40 year mode | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset from birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset from birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset from first to third decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset from first to third decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in 1st to 3rd decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in 1st to 3rd decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in adolescence or adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in adolescence or adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in adolescence or adulthood has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in adolescence or adulthood has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in adolescence or young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in adolescence or young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in adolescence or young adulthood has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in adolescence or young adulthood has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in adolescence to early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in adolescence to early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in adulthood (third to fourth decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in adulthood (third to fourth decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (3 to 10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (3 to 10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (5 to 10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (5 to 10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (6-7 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (6-7 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (ages 1.5 to 7 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (ages 1.5 to 7 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (later than in antenatal bartter syndrome 241200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (later than in antenatal bartter syndrome 241200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (mean 6 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (mean 6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (mean age 10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (mean age 10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (range 0.5 to 7 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (range 0.5 to 7 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (range 1 to 12 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (range 1 to 12 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (range 1 to 9 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (range 1 to 9 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (range 2 to 16 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (range 2 to 16 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (range 4 to 12 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (range 4 to 12 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (range birth to 10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (range birth to 10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (range infancy to 10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (range infancy to 10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (range infancy to 14 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (range infancy to 14 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood (usually before age 5 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood (usually before age 5 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood of blistering and pigmentary changes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood of blistering and pigmentary changes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or adolescence (median age of 9 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or adolescence (median age of 9 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or adolescence (range 6 to 15 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or adolescence (range 6 to 15 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or adolescence in most patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or adolescence in most patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or as young adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or as young adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or early adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or early adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or teenage years (7 to 16 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or teenage years (7 to 16 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood or youth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood or youth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood with exacerbation during puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood with exacerbation during puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood, adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood, adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood, adolescence, and adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood, adolescence, and adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in childhood, but most noticeable in mid-teens and early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in childhood, but most noticeable in mid-teens and early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early adulthood (average 26 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early adulthood (average 26 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early childhood (2-4 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early childhood (2-4 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early childhood (4 to 5 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early childhood (4 to 5 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early childhood (age 3) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early childhood (age 3) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early childhood (infancy to 5 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early childhood (infancy to 5 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early childhood (infancy to 6 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early childhood (infancy to 6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early childhood (infancy to age 7 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early childhood (infancy to age 7 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early childhood after initial normal development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early childhood after initial normal development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early childhood or adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early childhood or adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early childhood to puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early childhood to puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early first decade, although some patients have onset at birth or early in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early first decade, although some patients have onset at birth or early in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early infancy (2 to 3 months of age) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early infancy (2 to 3 months of age) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early infancy, between 2 weeks and 3 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early infancy, between 2 weeks and 3 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early to late childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early to late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in early twenties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in early twenties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in feet and legs (peroneal distribution) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in females ranges from third to seventh decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in females ranges from third to seventh decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in fifth or sixth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in fifth or sixth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in fifties or sixties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in fifties or sixties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first 2 decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first 2 decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first 2 decades (range 6 to 15 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first 2 decades (range 6 to 15 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first 2 decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first 2 decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first 6 months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first 6 months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first 8 weeks of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first 8 weeks of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first and second decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first and second decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first days of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first days of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decade (average 5 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade (average 5 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decade (birth to 6 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade (birth to 6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decade (birth to age 5 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade (birth to age 5 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decade (e.g. 180380.0028) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade (e.g. 180380.0028) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decade (range 1 to 7 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade (range 1 to 7 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decade (range 1 to 9 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade (range 1 to 9 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first decades (males) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first decades (males) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first few years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first few years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first hours to days of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first hours to days of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first month of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first month of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first months or years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first months or years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first or second decade (range 4 to 13 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first or second decade (range 4 to 13 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first or second decade (range infancy to teenage years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first or second decade (range infancy to teenage years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first or second decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first or second decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first weeks or months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first weeks or months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in first weeks to months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in first weeks to months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in fourth and fifth decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in fourth and fifth decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in fourth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in fourth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in fourth to fifth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in fourth to fifth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in fourth to sixth decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in fourth to sixth decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy (1-2 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy (1-2 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy (3 months on) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy (3 months on) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy (3 to 7 months) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy (3 to 7 months) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy (average 4 months, but may be earlier) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy (average 4 months, but may be earlier) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy (first hours to weeks of life) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy (first hours to weeks of life) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy (first year of life) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy (first year of life) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy after normal birth and neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy after normal birth and neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy after weaning --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy after weaning | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy after weaning from being breast-fed --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy after weaning from being breast-fed | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy and early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy and early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy and third decade had been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy and third decade had been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy of acute hypoglycemic episodes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy of acute hypoglycemic episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or childhood (range 1 to 13 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or childhood (range 1 to 13 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or childhood (range 1 to 6 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or childhood (range 1 to 6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or early childhood (before age 3 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or early childhood (before age 3 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or early childhood (birth to 6 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or early childhood (birth to 6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or first years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or first years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or in the first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or in the first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy or late childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy or late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy up to 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy up to 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy was reported in 1 family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy was reported in 1 family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in infancy, but may not be diagnosed until later in mild cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in infancy, but may not be diagnosed until later in mild cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late adulthood (44 to 73 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late adulthood (44 to 73 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late childhood (after age 10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late childhood (after age 10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late childhood or adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late childhood or adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late childhood or early teens --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late childhood or early teens | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late childhood/adolescence (approximately 15 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late childhood/adolescence (approximately 15 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late teens to early forties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late teens to early forties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late teens to twenties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late teens to twenties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late twenties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late twenties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late twenties to thirties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late twenties to thirties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in late-childhood to early adulthood (12 to 20 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in late-childhood to early adulthood (12 to 20 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in lower limbs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in lower limbs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in males in first to third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in males in first to third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in mid to late childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in mid to late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in mid-adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in mid-adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in mid-forties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in mid-forties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in middle age (44 to 60 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in middle age (44 to 60 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in neonatal period or before age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in neonatal period or before age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in neonatal period or early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in neonatal period or early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in neonatal period or infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in neonatal period or infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in newborns or infants --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in newborns or infants | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second and third decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second and third decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second and third decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second and third decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second decade of life progresses from mild to profound hearing loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second decade of life progresses from mild to profound hearing loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second decade or as young adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second decade or as young adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second decade, but sometimes earlier --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second decade, but sometimes earlier | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second half of the first decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second half of the first decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second or third decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second or third decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second to fifth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second to fifth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second to fourth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second to fourth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in second to third decades (postlingual) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in second to third decades (postlingual) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in teenage or young adult years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in teenage or young adult years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in teenage years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in teenage years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in teens has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in teens has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in teens or early twenties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in teens or early twenties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in teens or young adulthood (range 13 to 45 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in teens or young adulthood (range 13 to 45 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in teens to 20's --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in teens to 20's | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in teens to late twenties (range 14 to 44 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in teens to late twenties (range 14 to 44 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the 3rd decade of life or later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the 3rd decade of life or later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the first 2 years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the first 2 years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the first decade (range birth to 8 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the first decade (range birth to 8 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the first few months of life patients may need lifelong total parenteral nutrition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the first few months of life patients may need lifelong total parenteral nutrition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the first hours or days of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the first hours or days of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the first months of life (3 to 7 months) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the first months of life (3 to 7 months) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the first or second decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the first or second decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the fourth to sixth decades (mean 40 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the fourth to sixth decades (mean 40 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the neonatal period (0-38 days) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the neonatal period (0-38 days) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the perinatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the perinatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the second or third decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the second or third decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the second to fourth decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the second to fourth decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in the sixth or seventh decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in the sixth or seventh decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in third or fourth decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in third or fourth decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in third to fifth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in third to fifth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in third to fourth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in third to fourth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in utero in severely affected patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in utero in severely affected patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in utero or at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in utero or at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in utero or early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in utero or early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in utero or in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in utero or in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in utero, infancy, or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in utero, infancy, or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in young adulthood (range 18 to 23 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in young adulthood (range 18 to 23 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset in young adulthood or adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset in young adulthood or adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset is usually in childhood or adolescence (2 to 18 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset is usually in childhood or adolescence (2 to 18 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset late childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset may also occur in early infancy, adolescence, or adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset may also occur in early infancy, adolescence, or adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset may be prelingual or in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset may be prelingual or in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset may occur in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset may occur in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset mid to late adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset mid to late adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset occurs earlier in males than females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset occurs earlier in males than females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of abnormal eye movements in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of abnormal eye movements in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of acanthosis nigricans correlates with onset of diabetes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of acanthosis nigricans correlates with onset of diabetes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of acanthosis nigricans in childhood or by puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of acanthosis nigricans in childhood or by puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of achalasia in infancy or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of achalasia in infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of acne in adolescence, persists into adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of acne in adolescence, persists into adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of acute encephalopathic attacks in childhood (3 to 7 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of acute encephalopathic attacks in childhood (3 to 7 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of alopecia in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of alopecia in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of arthritis in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of arthritis in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of ataxia and neuropathy in early twenties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of ataxia and neuropathy in early twenties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of ataxia between 1 and 3 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of ataxia between 1 and 3 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of ataxia in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of ataxia in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of ataxia in early childhood (range 15 months to 3 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of ataxia in early childhood (range 15 months to 3 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of ataxia in the fifties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of ataxia in the fifties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of autoinflammation in infancy or first few years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of autoinflammation in infancy or first few years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of bleeding in infancy or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of bleeding in infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of bleeding symptoms in childhood or young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of bleeding symptoms in childhood or young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of blistering skin in infancy with improvement over time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of blistering skin in infancy with improvement over time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of bone disease in second decade (range 18-44 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of bone disease in second decade (range 18-44 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of bone fragility in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of bone fragility in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of calf hypotrophy may occur earlier --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of calf hypotrophy may occur earlier | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of cardiac symptoms in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of cardiac symptoms in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of cardiomyopathy may occur several months after birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of cardiomyopathy may occur several months after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of cataracts in late adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of cataracts in late adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of choreoathetosis in childhood or young adult (6-23 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of choreoathetosis in childhood or young adult (6-23 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of choroideremia in second to third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of choroideremia in second to third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of chronic progressive polyneuropathy in late childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of chronic progressive polyneuropathy in late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of clinical features around puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of clinical features around puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of contractures in utero --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of contractures in utero | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of cough in early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of cough in early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of crises in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of crises in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of deafness and diabetes in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of deafness and diabetes in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of deafness in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of deafness in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of dementia in the thirties or forties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of dementia in the thirties or forties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of diabetes at less than 25 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of diabetes at less than 25 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of diabetes in neonatal period/ early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of diabetes in neonatal period/ early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of diabetes in teenage years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of diabetes in teenage years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of dilated cardiomyopathy less than 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of dilated cardiomyopathy less than 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease 3-30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease 3-30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease 3-8 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease 3-8 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease 7 months to 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease 7 months to 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease after fourth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease after fourth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease around 10 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease around 10 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease before 7 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease before 7 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease between 25 and 40 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease between 25 and 40 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease in fourth or fifth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease in fourth or fifth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease in late childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease in late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of disease within the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of disease within the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of dysmorphic features and developmental delay in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of dysmorphic features and developmental delay in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of dystonia at 12 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of dystonia at 12 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of dystonia is in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of dystonia is in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of edema in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of edema in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of encephalopathy between ages 2 and 3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of encephalopathy between ages 2 and 3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of end-stage renal disease 15 to 20 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of end-stage renal disease 15 to 20 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of episodic liver failure in first 2 years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of episodic liver failure in first 2 years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of essential tremor between 16 and 44 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of essential tremor between 16 and 44 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of febrile seizures typically between 6 months and 6 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of febrile seizures typically between 6 months and 6 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of fracture usually when child begins to walk --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of fracture usually when child begins to walk | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of fractures 4-18 months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of fractures 4-18 months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of fractures in infancy to early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of fractures in infancy to early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of gait abnormalities at 8 to 40 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of gait abnormalities at 8 to 40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of gastrointestinal tumors typically occurs in the second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of gastrointestinal tumors typically occurs in the second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of gaze palsy at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of gaze palsy at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hand involvement at 14 to 60 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hand involvement at 14 to 60 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss in childhood (range 7 to 13 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss in childhood (range 7 to 13 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss in first decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss in first decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss in first or second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss in first or second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss in late childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss in late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss in late childhood or adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss in late childhood or adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss in second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss in second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss prior to or during adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss prior to or during adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hearing loss ranges from childhood to young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hearing loss ranges from childhood to young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hematologic or cns tumors in the first or second decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hematologic or cns tumors in the first or second decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hemolytic anemia shortly after birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hemolytic anemia shortly after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hyperuricemia or gout in young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hyperuricemia or gout in young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of hypoglycemia and hyperinsulinism in the neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of hypoglycemia and hyperinsulinism in the neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of illness often associated with acute infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of illness often associated with acute infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of insulin resistance may occur in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of insulin resistance may occur in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of joint contractures later in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of joint contractures later in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of joint pain in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of joint pain in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of kyphosis in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of kyphosis in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of lesions may occur in early childhood or as late as the seventh decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of lesions may occur in early childhood or as late as the seventh decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of linear striations between 5 months and 6 years (only in affected females) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of linear striations between 5 months and 6 years (only in affected females) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of lipodystrophy in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of lipodystrophy in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of lipodystrophy later in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of lipodystrophy later in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of liver involvement in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of liver involvement in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of lymphedema before puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of lymphedema before puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of macrocephaly in the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of macrocephaly in the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of major clinical features in young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of major clinical features in young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of malignancy can occur throughout life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of malignancy can occur throughout life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of mental impairment in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of mental impairment in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of mild symptoms in first or second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of mild symptoms in first or second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of motor disturbances in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of motor disturbances in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of muscle weakness around age 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of muscle weakness around age 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of muscle weakness in early childhood, usually before age 10 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of muscle weakness in early childhood, usually before age 10 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of muscle weakness in fifth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of muscle weakness in fifth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of muscle weakness in late adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of muscle weakness in late adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of myoclonus later in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of myoclonus later in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of neurologic disease in early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of neurologic disease in early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of neurologic events can occur between 4 and 35 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of neurologic events can occur between 4 and 35 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of neurologic features is variable, even within the same family (range early childhood to adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of neurologic features is variable, even within the same family (range early childhood to adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of neurologic symptoms often by 30 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of neurologic symptoms often by 30 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of neuromuscular symptoms between 6 months and 1 year of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of neuromuscular symptoms between 6 months and 1 year of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of normal pressure hydrocephalus after age 65 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of normal pressure hydrocephalus after age 65 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of optic atrophy in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of optic atrophy in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of optic atrophy in first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of optic atrophy in first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of optic atrophy in infancy or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of optic atrophy in infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of optic neuropathy is usually in early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of optic neuropathy is usually in early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of osteoarthritis in teens to early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of osteoarthritis in teens to early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of other symptoms in adolescence or early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of other symptoms in adolescence or early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of overgrowth in second to third month of life (in some cases) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of overgrowth in second to third month of life (in some cases) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of palmoplantar hyperkeratosis 7-8 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of palmoplantar hyperkeratosis 7-8 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of parkinsonism in early twenties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of parkinsonism in early twenties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of parkinsonism in first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of parkinsonism in first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of peripheral neuropathy in the first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of peripheral neuropathy in the first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of peripheral neuropathy ranges from childhood to mid-adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of peripheral neuropathy ranges from childhood to mid-adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of progressive spastic paraplegia in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of progressive spastic paraplegia in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of proteinuria in the second to fourth decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of proteinuria in the second to fourth decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of proteinuria in the third to fourth decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of proteinuria in the third to fourth decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of renal dysfunction in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of renal dysfunction in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of renal failure in adulthood (range twenties to fifties) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of renal failure in adulthood (range twenties to fifties) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of scoliosis as early as 2 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of scoliosis as early as 2 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures around 7 to 12 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures around 7 to 12 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures at 2-8 days of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures at 2-8 days of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures before age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures before age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures between 2 and 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures between 2 and 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures between 8 and 11 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures between 8 and 11 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures between 9 and 12 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures between 9 and 12 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures in first 6 months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures in first 6 months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures in first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures in first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures in first months of life (usually 4 to 7 months) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures in first months of life (usually 4 to 7 months) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures in infancy or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures in infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures in later childhood (5 to 10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures in later childhood (5 to 10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of seizures ranges from 2 to 11 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of seizures ranges from 2 to 11 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of sensory neuropathy in later adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of sensory neuropathy in later adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of skin lesions at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of skin lesions at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of skin manifestations from birth to puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of skin manifestations from birth to puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of sleep terrors between age 4 and 12 years old --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of sleep terrors between age 4 and 12 years old | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of sleepwalking between 4 and 8 years old --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of sleepwalking between 4 and 8 years old | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of slowly progressive spastic paraplegia in first or second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of slowly progressive spastic paraplegia in first or second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of spastic paraplegia in first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of spastic paraplegia in first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of spasticity by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of spasticity by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of spasticity in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of spasticity in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms 2-12 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms 2-12 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms 2-4 weeks of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms 2-4 weeks of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms 2-6 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms 2-6 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms after age 5 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms after age 5 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms age 5-30 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms age 5-30 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms at 2-4 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms at 2-4 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms between ages 3-8 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms between ages 3-8 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in adolescence or early adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in adolescence or early adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in childhood with stiff, painful joints --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in childhood with stiff, painful joints | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in fifth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in fifth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in first decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in first decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in first or second decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in first or second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in second decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in second or third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in second or third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in second or third decade (mean 25 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in second or third decade (mean 25 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in second to fifth decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in second to fifth decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in second to third decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in second to third decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in the fourth to sixth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in the fourth to sixth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in third to fourth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in third to fourth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms in third to sixth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms in third to sixth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms less than one year --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms less than one year | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms often associated with nonspecific febrile illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms often associated with nonspecific febrile illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms usually between 12-15 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms usually between 12-15 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms usually in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms usually in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of symptoms within the first 2 decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of symptoms within the first 2 decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of thrombocytopenia in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of thrombocytopenia in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of thrombosis by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of thrombosis by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of tremor usually before onset of seizures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of tremor usually before onset of seizures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of tumors usually in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of tumors usually in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of vision loss in young adulthood (<20 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of vision loss in young adulthood (<20 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of visual loss in childhood (around age 5 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of visual loss in childhood (around age 5 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of visual loss in the first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of visual loss in the first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset of visual loss in the first or second decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset of visual loss in the first or second decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset often begins in childhood or adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset often begins in childhood or adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset often in late adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset often in late adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset precipitated by fasting or illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset precipitated by fasting or illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset prenatally or at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset prenatally or at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset ranges from 2 days to 7 months (most at 2-3 months) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset ranges from 2 days to 7 months (most at 2-3 months) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset ranges from birth to age 4 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset ranges from birth to age 4 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset ranges from childhood to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset ranges from childhood to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset ranges from childhood to young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset ranges from childhood to young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset ranges from early childhood to adulthood (usually before age 15) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset ranges from early childhood to adulthood (usually before age 15) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset ranges from first to third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset ranges from first to third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset ranges from young adulthood to sixties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset ranges from young adulthood to sixties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset second decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset soon after birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset soon after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset soon after birth or within the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset soon after birth or within the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset typically in childhood although onset in late adolescence or early adulthood has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset typically in childhood although onset in late adolescence or early adulthood has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually after age 40 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually after age 40 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually after viral-like infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually after viral-like infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually associated with febrile illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually associated with febrile illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually at 2 to 6 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually at 2 to 6 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually at birth, but may occur later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually at birth, but may occur later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually before age 10 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually before age 10 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually before age 40 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually before age 40 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually before age 40 years (range 15 to 55) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually before age 40 years (range 15 to 55) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually between 30 and 50 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually between 30 and 50 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually by age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually by age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in adulthood although childhood onset has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in adulthood although childhood onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in childhood (1 to 9 years of age) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in childhood (1 to 9 years of age) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in childhood (infancy to teens) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in childhood (infancy to teens) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in childhood (range 17 months to 39 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in childhood (range 17 months to 39 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in childhood (range 6 months to 16 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in childhood (range 6 months to 16 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in childhood (range infancy to late childhood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in childhood (range infancy to late childhood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in childhood after bcg vaccination --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in childhood after bcg vaccination | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in early adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in early adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in early childhood (but can range from infancy to adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in early childhood (but can range from infancy to adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in early childhood, although ranges from birth to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in early childhood, although ranges from birth to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in first month of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in first month of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in first or second decade (mean 10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in first or second decade (mean 10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in first or second decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in first or second decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in first to third decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in first to third decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in infancy although later onset may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in infancy although later onset may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in infancy or childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in infancy or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in infancy or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in infancy or early childhood (9 months to 6 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in infancy or early childhood (9 months to 6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile') | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in late adolescence or early adulthood (range 15 to 45 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in late adolescence or early adulthood (range 15 to 45 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in late infancy or childhood (1 to 6 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in late infancy or childhood (1 to 6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in mid-teens, average 15 years (range 2 to 20 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in mid-teens, average 15 years (range 2 to 20 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in second decade (may occur earlier) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in second decade (may occur earlier) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in second decade of life, although earlier and later onset have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in second decade of life, although earlier and later onset have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in second or third decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in second or third decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in the first 4 years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in the first 4 years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in the first decade (range 0.8 to 5 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in the first decade (range 0.8 to 5 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in the neck --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in the neck | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in the neonatal period although later onset has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in the neonatal period although later onset has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in the third decade (range 11 to 50 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in the third decade (range 11 to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in third decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in third decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in third or fourth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in third or fourth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually in young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually in young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset usually within first weeks of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset usually within first weeks of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset within first 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset within first 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset within first 2 years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset within first 2 years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset within first 3 months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset within first 3 months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset within first 6 months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset within first 6 months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset within first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset within first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:onset within the first decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:onset within the first decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ophthalmologic signs onset in first to sixth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ophthalmologic signs onset in first to sixth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:opportunistic infections --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:opportunistic infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:oral contraceptives may also cause symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:oral contraceptives may also cause symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:oral supplementation with ubiquinone does not result in major clinical improvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:oral supplementation with ubiquinone does not result in major clinical improvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ossification evident 2-8 months following swelling --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ossification evident 2-8 months following swelling | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ossification occurs spontaneously during childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ossification occurs spontaneously during childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:other half show head circumference more retarded than height --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:other half show head circumference more retarded than height | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:other muscle become involved about 5 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:other muscle become involved about 5 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:other tumors may also occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:other tumors may also occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:overall course less severe compared to patients with cfh (134370) mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:overall course less severe compared to patients with cfh (134370) mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:overall prevalence is between 0.5 and 14 per 100,000 people per year --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:overall prevalence is between 0.5 and 14 per 100,000 people per year | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:overlap with obsessive-compulsive disorder (ocd, 164230) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:overlap with obsessive-compulsive disorder (ocd, 164230) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:overlap with tourette syndrome (137580) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:overlap with tourette syndrome (137580) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:overlapping clinical spectrum and allelic to masa syndrome (303350) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:overlapping clinical spectrum and allelic to masa syndrome (303350) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:overlapping features of digeorge syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:overlapping features of digeorge syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:overlapping features with barber-say syndrome (209885) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:overlapping features with barber-say syndrome (209885) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pain in lower limb --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pain in lower limb | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pain is noted to feel cold --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pain is noted to feel cold | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pain is relieved by antiinflammatory medication --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pain is relieved by antiinflammatory medication | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pain most commonly affects the trunk, extremities, pelvic region, buttocks --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pain most commonly affects the trunk, extremities, pelvic region, buttocks | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pain tends to occur later in the day --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pain tends to occur later in the day | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:painful cramping following ischemic exercise test --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:painful cramping following ischemic exercise test | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pancreatic endocrine abnormalities reported in 1 family only --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pancreatic endocrine abnormalities reported in 1 family only | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:part of 'dent disease complex' --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:part of 'dent disease complex' | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:part of 'dent disease complex' (see 300009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:part of 'dent disease complex' (see 300009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:partial factor viii deficiency in heterozygous carriers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:partial factor viii deficiency in heterozygous carriers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:partial laminin alpha-2 deficiency results in milder phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:partial laminin alpha-2 deficiency results in milder phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:partial or absent response to steroid treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:partial or absent response to steroid treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:partially responsive to laser treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:partially responsive to laser treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:paternal age effect --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:paternal age effect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:paternal anticipation bias --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:paternal anticipation bias | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pathogenic alleles contain 52 to 86 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pathogenic alleles contain 52 to 86 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pathogenic alleles contain 71 to 1,300 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pathogenic alleles contain 71 to 1,300 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pathogenic alleles contain 75-11,000 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pathogenic alleles contain 75-11,000 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pathogenic alleles contain greater than 41 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pathogenic alleles contain greater than 41 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pathogenic alleles have 19 to 33 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pathogenic alleles have 19 to 33 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pathogenic cag repeat length is 51 to 78 triplets --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pathogenic cag repeat length is 51 to 78 triplets | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patient b had a more severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patient b had a more severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patient satisfaction with healthcare delivery:score:pt:^patient:qn --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patient satisfaction with healthcare delivery:score:pt:^patient:qn | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patient with truncating mutations are more likely to develop neurologic abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patient with truncating mutations are more likely to develop neurologic abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients achieve ambulation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients achieve ambulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients are 46,xy individuals who may be phenotypically female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients are 46,xy individuals who may be phenotypically female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients are born with normal head circumference --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients are born with normal head circumference | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients are often asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients are often asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients are often misdiagnosed with spherocytosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients are often misdiagnosed with spherocytosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients are often of mediterranean origin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients are often of mediterranean origin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients are prone to impaired thermoregulation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients are prone to impaired thermoregulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients are severely disabled as adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients are severely disabled as adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients are susceptible to sepsis and dehydration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients are susceptible to sepsis and dehydration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients become wheelchair-bound about 10 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients become wheelchair-bound about 10 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients become wheelchair-bound as adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients become wheelchair-bound as adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients between 30 and 60 years have discomfort with prolonged standing --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients between 30 and 60 years have discomfort with prolonged standing | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients can be divided into 2 groups based on whether typical hand anomalies are present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients can be divided into 2 groups based on whether typical hand anomalies are present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients can have als, ftd, or both --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients can have als, ftd, or both | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients can have multiple seizure types --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients can have multiple seizure types | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients develop acute symptoms under physiologic stress due to illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients develop acute symptoms under physiologic stress due to illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients develop aortic dissection with little or no aortic enlargement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients develop aortic dissection with little or no aortic enlargement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients develop multiple tumors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients develop multiple tumors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients die in infancy due to infectious complications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients die in infancy due to infectious complications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients do not exhibit ophthalmoplegia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients do not exhibit ophthalmoplegia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients do not exhibit skin pigmentation changes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients do not exhibit skin pigmentation changes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients do not have clinical hypothyroidism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients do not have clinical hypothyroidism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients do not have ectopia lentis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients do not have ectopia lentis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients exhibit no signs of ocular or cutaneous albinism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients exhibit no signs of ocular or cutaneous albinism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients from 4 unrelated families have been reported (as of october 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients from 4 unrelated families have been reported (as of october 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients from old order amish community and turkey have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients from old order amish community and turkey have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients gradually develop tolerance to carbohydrates over time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients gradually develop tolerance to carbohydrates over time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients have a distinctive shallow u-shaped audiogram --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients have a distinctive shallow u-shaped audiogram | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients have no abnormalities of hair, teeth, or bone --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients have no abnormalities of hair, teeth, or bone | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients have normal levels of vitamin a, beta-carotene, and zinc --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients have normal levels of vitamin a, beta-carotene, and zinc | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients have normal pituitary function --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients have normal pituitary function | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients have severe anemia requiring regular transfusions for normal activity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients have severe anemia requiring regular transfusions for normal activity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients look as if they have protein deficiency or malnutrition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients look as if they have protein deficiency or malnutrition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may be asymptomatic, but are at risk for metabolic decompensation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may be asymptomatic, but are at risk for metabolic decompensation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may become totally dependent for all activities of daily living --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may become totally dependent for all activities of daily living | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may become ventilator-dependent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may become ventilator-dependent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may become wheelchair-bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may become wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may become wheelchair-bound after about 12 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may become wheelchair-bound after about 12 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may become wheelchair-bound as adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may become wheelchair-bound as adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may have a combination phenotype of pmc and hypp (see 603967.0005) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may have benign course until late adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may have benign course until late adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may have either dementia or motor neuron disease or both --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may have either dementia or motor neuron disease or both | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may have recurrent infections due to immunosuppressive therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may have recurrent infections due to immunosuppressive therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may have seizures only, dyskinesia only, or both --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may have seizures only, dyskinesia only, or both | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may or may not have dysmorphic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may or may not have dysmorphic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may present with autoimmune features or primary immunodeficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may present with autoimmune features or primary immunodeficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may present with either renal or neurologic symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may present with either renal or neurologic symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may present with recurrent illnesses or infections, or shock --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may present with recurrent illnesses or infections, or shock | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may require implantable cardioverter defibrillators --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may require implantable cardioverter defibrillators | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may show both optic neuropathy and dystonia or only 1 disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may show both optic neuropathy and dystonia or only 1 disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may show intermittent signs of improvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may show intermittent signs of improvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients may show normal development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients may show normal development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients need lifelong total parenteral nutrition --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients need lifelong total parenteral nutrition | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients need support with walking or are wheelchair-bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients need support with walking or are wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients of brazilian origin have a pure cerebellar atrophy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients of brazilian origin have a pure cerebellar atrophy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients often become wheelchair-bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients often become wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients often become wheelchair-bound 3 to 4 decades after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients often become wheelchair-bound 3 to 4 decades after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients often have a more severe and complicated phenotype in addition to peo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients often have a more severe and complicated phenotype in addition to peo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients often nonambulatory by the mid-twenties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients often nonambulatory by the mid-twenties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients often require cardiac transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients often require cardiac transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients often require implantation of a pacemaker --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients often require implantation of a pacemaker | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients older than 60 years have severe degenerative arthritis in the feet --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients older than 60 years have severe degenerative arthritis in the feet | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients present at birth with respiratory distress or poor head control --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients present at birth with respiratory distress or poor head control | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients present with groin pain --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients present with groin pain | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients remain ambulatory --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients remain ambulatory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients require achilles tendon lengthening in first or second decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients require achilles tendon lengthening in first or second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients retain ambulation even after long disease course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients retain ambulation even after long disease course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients show sorbitol and glycerol intolerance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients show sorbitol and glycerol intolerance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients usually require total thyroidectomy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients usually require total thyroidectomy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients walk on tips of toes with dorsal foot deviated laterally --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients walk on tips of toes with dorsal foot deviated laterally | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients who acquire ability to walk may lose it --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients who acquire ability to walk may lose it | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with adult onset present with psychiatric features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with adult onset present with psychiatric features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with atypical form have milder disease, with onset in the first months of life and increased survival --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with atypical form have milder disease, with onset in the first months of life and increased survival | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with contiguous gene deletion of 8q24 have more severe features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with contiguous gene deletion of 8q24 have more severe features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with homozygous mutations have a more severe disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with homozygous mutations have a more severe disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with later onset do not have dysmorphic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with later onset do not have dysmorphic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with later onset have better prognosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with later onset have better prognosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with longer disease duration show motor neuron involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with longer disease duration show motor neuron involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with meb have less severe features and longer survival --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with meb have less severe features and longer survival | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with meb may acquire ability to walk and a few words --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with meb may acquire ability to walk and a few words | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with medication-resistant hypertension require bilateral adrenalectomy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with medication-resistant hypertension require bilateral adrenalectomy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with mutation in the nhlrc1 gene have slightly longer survival --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with mutation in the nhlrc1 gene have slightly longer survival | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with null mutations have neonatal onset within 72 hours of birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with null mutations have neonatal onset within 72 hours of birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with recessive mutations have a more severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with recessive mutations have a more severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with residual enzyme activity have childhood or adult onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with residual enzyme activity have childhood or adult onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with t2 deficiency and urinary abnormalities may be asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with t2 deficiency and urinary abnormalities may be asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with the autosomal recessive disorder have a more severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with the autosomal recessive disorder have a more severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with total c4 deficiency are homozygous for double null c4 haplotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with total c4 deficiency are homozygous for double null c4 haplotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:patients younger than 30 years complain only that they cannot run fast --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:patients younger than 30 years complain only that they cannot run fast | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pavm more frequent in hht1 than hht2 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pavm more frequent in hht1 than hht2 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:peak age of onset in second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:peak age of onset in second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:peak age of onset in second decade (range childhood to 50 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:peak age of onset in second decade (range childhood to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:peak age of onset in second decade (range childhood to 76 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:peak age of onset in second decade (range childhood to 76 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pectus carinatum present in obligate carrier mothers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pectus carinatum present in obligate carrier mothers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pedigrees compatible with autosomal dominant inheritance have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pedigrees compatible with autosomal dominant inheritance have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:penetrance 86% by 50 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:penetrance 86% by 50 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:penetrance is usually complete by age 65 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:penetrance is usually complete by age 65 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:penetrance of disease is complete between 30 and 40 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:penetrance of disease is complete between 30 and 40 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:peo is not always present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:peo is not always present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:percentages based on review of 51 published cases (pmid 24891339) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:percentages based on review of 51 published cases (pmid 24891339) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:performing laboratory medical director:id:pt:facility:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:performing laboratory medical director:id:pt:facility:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:performing laboratory name:identifier:point in time:facility:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:performing laboratory name:identifier:point in time:facility:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:performing laboratory phone:tele:pt:facility:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:performing laboratory phone:tele:pt:facility:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:performing laboratory:addr:pt:facility:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:performing laboratory:addr:pt:facility:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:perinatal death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:perinatal death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:perinatal lethal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:perinatal lethal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:perinatal lethality --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:perinatal lethality | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:periodontium is less severely affected than in papillon-lefevre syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:periodontium is less severely affected than in papillon-lefevre syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:peripheral neuropathy occurs in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:peripheral neuropathy occurs in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:periventricular heterotopia (300049) is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:periventricular heterotopia (300049) is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:persistence of febrile seizures beyond age 6 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:persistence of febrile seizures beyond age 6 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:persistent bleeding after injury or surgery --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:persistent bleeding after injury or surgery | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:persistent bleeding after trauma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:persistent bleeding after trauma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:persistent exposure to fructose leads to chronic liver and kidney complications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:persistent exposure to fructose leads to chronic liver and kidney complications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotype is classically defined as aplasia cutis and transverse limb defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype is classically defined as aplasia cutis and transverse limb defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotype is worsened by cold temperature --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype is worsened by cold temperature | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotype may be exacerbated by maltreatment in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype may be exacerbated by maltreatment in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotype may be influenced by maternal alcohol consumption during pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype may be influenced by maternal alcohol consumption during pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotype may or may not be consistent within a family. --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype may or may not be consistent within a family. | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic heterogeneity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic heterogeneity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with currarino syndrome (176450) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with currarino syndrome (176450) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with cytochrome c oxidase deficiency (220110) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with cytochrome c oxidase deficiency (220110) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with denys-drash syndrome (194080). --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with denys-drash syndrome (194080). | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with desbuquois dysplasia (251450) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with desbuquois dysplasia (251450) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with fhm1 (141500) and sca6 (183086) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with fhm1 (141500) and sca6 (183086) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with frontotemporal dementia (600274) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with frontotemporal dementia (600274) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with parkinson disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with parkinson disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with revesz syndrome (268130) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with revesz syndrome (268130) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic similarities to angelman syndrome (105830) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic similarities to angelman syndrome (105830) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic similarities to costello syndrome (218040) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic similarities to costello syndrome (218040) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic similarities to leigh syndrome (256000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic similarities to leigh syndrome (256000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic similarities to noonan syndrome (163950) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic similarities to noonan syndrome (163950) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic variability within families and among patients carrying the same mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic variability within families and among patients carrying the same mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic variability, intrafamilial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic variability, intrafamilial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic variation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic variation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypic variation in severity and symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypic variation in severity and symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypically indistinguishable from hemophilia a (306700) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypically indistinguishable from hemophilia a (306700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:phenotypically mild form of joubert syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:phenotypically mild form of joubert syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:physical features are apparent at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:physical features are apparent at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pigment does not develop with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pigment does not develop with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pigmentary abnormalities apparent at birth or in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pigmentary abnormalities apparent at birth or in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pigmented spots appear in infancy through childhood and fade in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pigmented spots appear in infancy through childhood and fade in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:plantar contractures become apparent with onset of ambulation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:plantar contractures become apparent with onset of ambulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:plasma cholinesterase measurement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:plasma cholinesterase measurement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pneumocytosis carinii infection (12 to 42%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pneumocytosis carinii infection (12 to 42%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:poland syndrome can be associated with moebius syndrome (157900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poland syndrome can be associated with moebius syndrome (157900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:polg mutations account for approximately 45% of all peo cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:polg mutations account for approximately 45% of all peo cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:polyps occur in teens --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:polyps occur in teens | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poor gonadotropin response to gonadotropin releasing hormone (gnrh) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:poor or no response to glucocorticoid treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poor or no response to glucocorticoid treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:poor outcome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poor outcome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:poor response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poor response to acetylcholinesterase inhibitors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:poor response to acetylcholinesterase inhibitors or cholinergic agents --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poor response to acetylcholinesterase inhibitors or cholinergic agents | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:poor response to g-csf treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poor response to g-csf treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:poor response to levodopa treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poor response to levodopa treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:poor response to the c5 inhibitor eculizumab --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:poor response to the c5 inhibitor eculizumab | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:positive family history in 12-33% patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:positive family history in 12-33% patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:positive response to treatment with growth hormone --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:positive response to treatment with growth hormone | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible autosomal dominant (165199) and autosomal recessive (258650) forms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible autosomal dominant (165199) and autosomal recessive (258650) forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible benefit from treatment with 3,4-diaminopyridine and salbutamol | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible defect of a specific lipase in the pathway of free fatty acid oxidation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible defect of a specific lipase in the pathway of free fatty acid oxidation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible favorable response to ketogenic diet --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible favorable response to ketogenic diet | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible genetic heterogeneity (linkage to xp22 in some families) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible genetic heterogeneity (linkage to xp22 in some families) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible gonadal mosaicism in one report --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible gonadal mosaicism in one report | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible increase of aneuploidy in offspring --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible increase of aneuploidy in offspring | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible x-linked inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible x-linked inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possible x-linked recessive inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possible x-linked recessive inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possibly allelic to cohen syndrome (216550) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possibly allelic to cohen syndrome (216550) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:possibly x-linked recessive inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:possibly x-linked recessive inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:postlingual onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:postlingual onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:preaxial involvement in approximately 60% of patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:preaxial involvement in approximately 60% of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:precipitated by febrile illness and fasting --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitated by febrile illness and fasting | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:precipitated by infection, fasting, or intercurrent illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitated by infection, fasting, or intercurrent illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:precipitated by mechanical compression or pressure on nerve --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitated by mechanical compression or pressure on nerve | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:precipitated by sleep deprivation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitated by sleep deprivation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:precipitating factors - ingestion of wheat gluten, rye, and/or barley --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitating factors - ingestion of wheat gluten, rye, and/or barley | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:precipitating factors include viral illness and pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:precipitating factors include viral illness and pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:predisposition to neoplasia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:predisposition to neoplasia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:predominantly occurs in young males with a high rate of atopic disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:predominantly occurs in young males with a high rate of atopic disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:predominantly occurs in young males with high rate of atopic disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:predominantly occurs in young males with high rate of atopic disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:preferably treated with iodine supplementation rather than thyroid hormone replacement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:preferably treated with iodine supplementation rather than thyroid hormone replacement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prelingual onset in males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prelingual onset in males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:premature death may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:premature death may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prenatal diagnosis available --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prenatal diagnosis available | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prenatal diagnosis by ultrasound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prenatal diagnosis by ultrasound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prenatal history of maternal diabetes in 35% of cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prenatal history of maternal diabetes in 35% of cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prenatal onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prenatal onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prenatal onset or onset at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prenatal onset or onset at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prenatal onset or onset in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prenatal onset or onset in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prenatal or neonatal onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prenatal or neonatal onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prenatal or perinatal death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prenatal or perinatal death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prenatal or perinatal lethality in hemizygous males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prenatal or perinatal lethality in hemizygous males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:preponderance of affected females (80%) to males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:preponderance of affected females (80%) to males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:present at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:present at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:present in infancy in all affected individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:present in infancy in all affected individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:present in jewish yemenite population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:present in jewish yemenite population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presentation after 18 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation after 18 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presentation after 6 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation after 6 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presentation at 3-6 weeks of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation at 3-6 weeks of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presentation between 6-18 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation between 6-18 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presentation in childhood includes waddling gait and knee pain/stiffness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation in childhood includes waddling gait and knee pain/stiffness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presentation in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presentation in first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation in first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presenting symptoms in the upper body --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presenting symptoms in the upper body | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presents as early-onset strokes in 43% of patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presents as early-onset strokes in 43% of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presents at 2 to 3 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presents at 2 to 3 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presents at a later age than sporadic wilms tumor --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presents at a later age than sporadic wilms tumor | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presents at a later stage than sporadic wilms tumor --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presents at a later stage than sporadic wilms tumor | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presents at birth or early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presents at birth or early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:presumed autosomal dominant with incomplete penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:presumed autosomal dominant with incomplete penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence 1 in 1,250 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence 1 in 1,250 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence 1 in 8000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence 1 in 8000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence 1-2% in northern european populations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence 1-2% in northern european populations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence 1/10,000-1/15,000 female births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence 1/10,000-1/15,000 female births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence approximately 1 in 4,000 males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence approximately 1 in 4,000 males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence estimated at 1 in 86,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence estimated at 1 in 86,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence in caucasians is 1 in 1,000,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence in caucasians is 1 in 1,000,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence in finland is 1 in 25,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence in finland is 1 in 25,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence in norway is 1 in 80,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence in norway is 1 in 80,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence in poland is 1 in 129,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence in poland is 1 in 129,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence in sardinia is 1 in 14,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence in sardinia is 1 in 14,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence in slovenia is 1 in 43,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence in slovenia is 1 in 43,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence in taiwan is 1 in 132,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence in taiwan is 1 in 132,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence in the finnish population of 5.8 per million --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence in the finnish population of 5.8 per million | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence is estimated to be 1 in 1,100,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence is estimated to be 1 in 1,100,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence is estimated to be 1 in 150,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence is estimated to be 1 in 150,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence much higher in whites than blacks --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence much higher in whites than blacks | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 0.5 to 1 in 1,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 0.5 to 1 in 1,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 0.6 to 10 per 100,000 individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 0.6 to 10 per 100,000 individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 1,429 in tanzania --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 1,429 in tanzania | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 1,500 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 1,500 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 10,000 african-americans --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 10,000 african-americans | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 10,000 caucasians --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 10,000 caucasians | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 100,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 100,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 150 to 1 in 1,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 150 to 1 in 1,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 150,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 150,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 2,833 in zimbabwe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 2,833 in zimbabwe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 200,000 to 1 in 800,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 200,000 to 1 in 800,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 227 hopi indians --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 227 hopi indians | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 240 zuni indians --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 240 zuni indians | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 28,000 african-americans --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 28,000 african-americans | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 28,000 caucasians --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 28,000 caucasians | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 3,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 3,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 3,900 in south africa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 3,900 in south africa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 30,000 in northern europe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 30,000 in northern europe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 300,000 in quebec --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 300,000 in quebec | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 40,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 40,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 40,000 among caucasians --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 40,000 among caucasians | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 40,000 to 1 in 80,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 40,000 to 1 in 80,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 50,000-70,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 50,000-70,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 6,000 to 1 in 10,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 6,000 to 1 in 10,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 7,900 in cameroon --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 7,900 in cameroon | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 1 in 70,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 1 in 70,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 19 in 1,000,000 in sweden --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 19 in 1,000,000 in sweden | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 2-7% in english-speaking preschool children --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 2-7% in english-speaking preschool children | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of 7 in 100,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of 7 in 100,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of approximately 1 in 2000 individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of approximately 1 in 2000 individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of essential tremor ranges from 0.4 to 6% in the general population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of essential tremor ranges from 0.4 to 6% in the general population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of in 1 in 8,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of in 1 in 8,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of sleep terrors about 3% in children --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of sleep terrors about 3% in children | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of sleep terrors less than 1% in adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of sleep terrors less than 1% in adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of sleepwalking about 3% in adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of sleepwalking about 3% in adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence of sleepwalking up to 26% in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence of sleepwalking up to 26% in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence ranges from 1 in 12,000 to 1 in 50,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence ranges from 1 in 12,000 to 1 in 50,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalence rates average 10-20% of the general population over age 60 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalence rates average 10-20% of the general population over age 60 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent among individuals of east asian descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent among individuals of east asian descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent among patients of asian descent, particularly japanese --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent among patients of asian descent, particularly japanese | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent in arabic, turkish, armenian, and sephardic jewish populations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent in arabic, turkish, armenian, and sephardic jewish populations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent in ashkenazi jews --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent in ashkenazi jews | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent in bulgarian gypsies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent in bulgarian gypsies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent in newfoundland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent in newfoundland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent in north africa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent in north africa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent in quebec --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent in quebec | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent in sweden --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent in sweden | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prevalent in the old order amish in the u.s. and in finland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prevalent in the old order amish in the u.s. and in finland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:primarily diagnosed in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:primarily diagnosed in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:primary teeth affected greater than secondary teeth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:primary teeth affected greater than secondary teeth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:profound dementia and death usually occurs by age 50 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:profound dementia and death usually occurs by age 50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prognosis good --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prognosis good | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progresses through puberty, then stabilizes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progresses through puberty, then stabilizes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progresses to involve upper limbs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progresses to involve upper limbs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progression in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progression in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progression more frequent in men than women --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progression more frequent in men than women | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progression of phenotype with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progression of phenotype with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progression of the disorder is precipitated by viral symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progression of the disorder is precipitated by viral symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progression to profound hearing loss affecting all frequencies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progression to profound hearing loss affecting all frequencies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive cerebellar ataxia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive cerebellar ataxia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive deafness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive deafness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive disease is seen in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive disease is seen in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive disease with onset in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive disease with onset in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive disorder due to secondary myopathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive disorder due to secondary myopathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive disorder regarding both neurologic and renal symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive disorder regarding both neurologic and renal symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive disorder that may become stable in young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive disorder that may become stable in young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive disorder, usually with rapid, relentless course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive disorder, usually with rapid, relentless course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive disorder, with older patients exhibiting more severe symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive disorder, with older patients exhibiting more severe symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive neurologic deterioration if untreated --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive neurologic deterioration if untreated | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive or slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive or slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive renal disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive renal disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive sclerosis with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive sclerosis with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive skeletal dysplasia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive skeletal dysplasia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:progressive, with full manifestations at puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:progressive, with full manifestations at puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:prominent psychiatric symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:prominent psychiatric symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:protein c deficiency is found in 3-4% of patients with venous thromboembolism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:protein c deficiency is found in 3-4% of patients with venous thromboembolism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:protein s deficiency is found in 2-3% of patients with thromboembolism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:protein s deficiency is found in 2-3% of patients with thromboembolism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:protracted course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:protracted course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:protracted disease course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:protracted disease course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:provoked by crying or emotional upset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:provoked by crying or emotional upset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pseudomembrane formation triggered by injury, infection, irritation, surgery --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pseudomembrane formation triggered by injury, infection, irritation, surgery | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:psychiatric symptoms may be the presenting sign --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:psychiatric symptoms may be the presenting sign | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:psychomotor delay may already be apparent at onset of seizures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:psychomotor delay may already be apparent at onset of seizures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ptosis is usually presenting feature --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ptosis is usually presenting feature | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pulsatile headache lasts hours to days --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pulsatile headache lasts hours to days | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:pyridoxine responsive individuals often have milder manifestations than those not responsive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:pyridoxine responsive individuals often have milder manifestations than those not responsive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:radioresistant dna synthesis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:radioresistant dna synthesis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:range of onset 11 to 50 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:range of onset 11 to 50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapid disease progression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapid disease progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapid disease progression from ages 40 to 50 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapid disease progression from ages 40 to 50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapid progression in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapid progression in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapid progression to disability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapid progression to disability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapidly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapidly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapidly progressive (6-24 months) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapidly progressive (6-24 months) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapidly progressive course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapidly progressive course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapidly progressive deterioration (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapidly progressive deterioration (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapidly progressive disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapidly progressive disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapidly progressive episodes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapidly progressive episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapidly progressive neonatal onset with early death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapidly progressive neonatal onset with early death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapidly progressive to persistent vegetative state or death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapidly progressive to persistent vegetative state or death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rare adult cases reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rare adult cases reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rare adult onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rare adult onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rare autosomal dominant inheritance has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rare autosomal dominant inheritance has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rare disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rare disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rare patients with homozygous null mutations have most severe disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rare patients with homozygous null mutations have most severe disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rare spontaneous improvement occurs (8%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rare spontaneous improvement occurs (8%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rare survival to teens --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rare survival to teens | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rarely produces clinical jaundice --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rarely produces clinical jaundice | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rarely reported in infants --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rarely reported in infants | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rarely, patients may be asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rarely, patients may be asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rash, edema, and arthralgia may occur during crisis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rash, edema, and arthralgia may occur during crisis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ratio female to male, 19:10 in index family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ratio female to male, 19:10 in index family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reason for lab test:type:pt:bld.dot:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reason for lab test:type:pt:bld.dot:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recessive inheritance has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recessive inheritance has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recessive inheritance is rare --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recessive inheritance is rare | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrence is possible --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrence is possible | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrence of symptoms after cholecystectomy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrence of symptoms after cholecystectomy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrent acute episodes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent acute episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrent bacterial infections beginning in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent bacterial infections beginning in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrent bacterial infections with onset in the first or second year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent bacterial infections with onset in the first or second year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrent bacterial, viral, and fungal infections --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent bacterial, viral, and fungal infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced exercise tolerance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced exercise tolerance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced fertility --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced fertility | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced fetal movement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced fetal movement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced life expectancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced life expectancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced life expectancy, death by 10 years of age in 70% of patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced life expectancy, death by 10 years of age in 70% of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced longevity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced longevity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced penetrance (75%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced penetrance (75%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced penetrance (89%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced penetrance (89%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced penetrance (about 60%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced penetrance (about 60%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced penetrance (approximately 54%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced penetrance (approximately 54%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced penetrance (approximately 87%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced penetrance (approximately 87%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced penetrance has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced penetrance has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced penetrance in females --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced penetrance in females | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reference lab test identifier:id:xxx:reference lab test:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reference lab test identifier:id:xxx:reference lab test:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reference lab test method:type:time reported elsewhere:reference lab test:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reference lab test method:type:time reported elsewhere:reference lab test:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reference lab test name:type:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reference lab test name:type:time reported elsewhere:reference lab test:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:regional, racial, and ethnic clustering has been noted --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:regional, racial, and ethnic clustering has been noted | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:regression in infancy (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:regression in infancy (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:relapsing-remitting course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relapsing-remitting course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:relationship of rare neuropsychiatric signs to histidinemia is unclear --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relationship of rare neuropsychiatric signs to histidinemia is unclear | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:relatively benign course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relatively benign course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:relatively benign course after acute episodes in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relatively benign course after acute episodes in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:relatively mild course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relatively mild course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:relatively mild cutis laxa, associated with severe vascular abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relatively mild cutis laxa, associated with severe vascular abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:relatively slow progression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relatively slow progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:relatives with multiple small congenital pigmented nevi --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relatives with multiple small congenital pigmented nevi | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:relief is achieved by cooling or by elevating the extremities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:relief is achieved by cooling or by elevating the extremities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:renal anomalies are not always present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:renal anomalies are not always present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:renal dysfunction normalizes in the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:renal dysfunction normalizes in the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:renal failure in second or third decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:renal failure in second or third decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:renal involvement and coloboma may not be present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:renal involvement and coloboma may not be present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:repeat is unstable if > 52 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:repeat is unstable if > 52 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:repeat tracts may expand as patient ages (somatic instability) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:repeat tracts may expand as patient ages (somatic instability) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported cases all sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported cases all sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported in 1 family (last curated may 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported in 1 family (last curated may 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported in 2 sibs (february 1991) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported in 2 sibs (february 1991) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported in a large hutterite family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported in a large hutterite family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported in individuals of amish or mennonite descent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported in individuals of amish or mennonite descent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported in individuals of french canadian origin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported in individuals of french canadian origin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported in individuals of jewish moroccan ancestry --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported in individuals of jewish moroccan ancestry | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported in individuals of sephardic jewish ancestry --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported in individuals of sephardic jewish ancestry | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported in the ohio amish anabaptist community --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported in the ohio amish anabaptist community | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reported patients are asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reported patients are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:resembles intrauterine torch infection but without intrauterine infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:resembles intrauterine torch infection but without intrauterine infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:resembles pseudo-torch syndrome (251290) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:resembles pseudo-torch syndrome (251290) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:residual neurologic deficits are slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:residual neurologic deficits are slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:resource identifier:uri:pt:study:nom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:resource identifier:uri:pt:study:nom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:respiratory distress may be precipitated by viral respiratory infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:respiratory distress may be precipitated by viral respiratory infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:response to acetazolamide --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:response to acetazolamide | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:response to benadryl (diphenhydramine) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:response to benadryl (diphenhydramine) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:response to zinc supplementation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:response to zinc supplementation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:responsive to high-dose biotin or biotin/thiamine treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:responsive to high-dose biotin or biotin/thiamine treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:responsive to oral mannose therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:responsive to oral mannose therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:responsive to thiazide diuretics --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:responsive to thiazide diuretics | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:responsive to treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:responsive to treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:responsive to vitamin b12 therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:responsive to vitamin b12 therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:results in severe motor disability and loss of independent ambulation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:results in severe motor disability and loss of independent ambulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:reticulate hyperpigmentation onset birth - 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:reticulate hyperpigmentation onset birth - 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:retinal arteriolar tortuosity develops in adolescence and is progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:retinal arteriolar tortuosity develops in adolescence and is progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:retinal degeneration not always present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:retinal degeneration not always present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:retinal hemorrhages usually resolve without sequelae --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:retinal hemorrhages usually resolve without sequelae | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:rickets and premature primary tooth loss occur in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:rickets and premature primary tooth loss occur in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:right side affected greater than left side --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:right side affected greater than left side | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk haplotype found in dutch families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk haplotype found in dutch families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk of affected offspring in maternal translocation carrier - 4-10% --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk of affected offspring in maternal translocation carrier - 4-10% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk of affected offspring in paternal translocation carrier - 0-7% --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk of affected offspring in paternal translocation carrier - 0-7% | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk of death due to cardiac dysfunction --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk of death due to cardiac dysfunction | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk of sudden death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk of sudden death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk of sudden death due to cardiac arrhythmias --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk of sudden death due to cardiac arrhythmias | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk of sudden death due to cardiac defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk of sudden death due to cardiac defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk of sudden death in childhood due to cardiac arrest --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk of sudden death in childhood due to cardiac arrest | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk of sudden death with exertion --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk of sudden death with exertion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:risk of thromboembolic stroke --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:risk of thromboembolic stroke | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sando (607459) is a phenotypic variant of autosomal recessive peo --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sando (607459) is a phenotypic variant of autosomal recessive peo | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:scalp hair quality improves during pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:scalp hair quality improves during pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seasonal variation in severity of skin symptoms reported by some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seasonal variation in severity of skin symptoms reported by some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:second most common form of usher syndrome type i --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:second most common form of usher syndrome type i | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:secondary features include arterial hypertension and renal involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:secondary features include arterial hypertension and renal involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:secondary hemorrhage --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:secondary hemorrhage | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:secondary prevention, avoid smoking, alcohol, and oxidants --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:secondary prevention, avoid smoking, alcohol, and oxidants | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:secondary tumors develop within the skin lesions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:secondary tumors develop within the skin lesions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:secretory diarrhea begins prenatally --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:secretory diarrhea begins prenatally | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see (277600) for a phenotypically similar autosomal recessive form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see (277600) for a phenotypically similar autosomal recessive form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see (608328) for a phenotypically similar autosomal dominant form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see (608328) for a phenotypically similar autosomal dominant form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see 123000 for an autosomal dominant form due to mutation in ankh (605145) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see 177850 for description of heterozygous phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see 177850 for description of heterozygous phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see 255160 for an autosomal recessive form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see 255160 for an autosomal recessive form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see 607731 for an autosomal recessive form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see 607731 for an autosomal recessive form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see 609888 for a discussion on leprosy susceptibility --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see 609888 for a discussion on leprosy susceptibility | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also a childhood-onset form (114100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also a childhood-onset form (114100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also adult-onset stiff person syndrome (184850) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also adult-onset stiff person syndrome (184850) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also an adult-onset form (213600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also an adult-onset form (213600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also antenatal bartter syndrome type 1 (601678) and bartter syndrome type 2 (241200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant form (128230) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant form (128230) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant form (160800), which is less common and less severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant form (160800), which is less common and less severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant form (176860) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant form (176860) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant giant axonal neuropathy (610100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant giant axonal neuropathy (610100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant hypophosphatemic rickets (193100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant hypophosphatemic rickets (193100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant lutheran-null phenotype (111150) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant lutheran-null phenotype (111150) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant peoa1 (157640) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant peoa1 (157640) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant robinow syndrome (180700) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant robinow syndrome (180700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal dominant sick sinus syndrome (163800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal dominant sick sinus syndrome (163800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal form, 146450, and another x-linked form, 300633 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal form, 146450, and another x-linked form, 300633 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal form, 146450, and another x-linked form, 300758 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal form, 146450, and another x-linked form, 300758 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal recessive familial mediterranean fever (fmf, 249100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal recessive familial mediterranean fever (fmf, 249100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal recessive form (255700), which is more common and more severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal recessive form (255700), which is more common and more severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal recessive form (612304) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal recessive form (612304) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal recessive peob (258450) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal recessive peob (258450) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal recessive robinow syndrome (268310) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal recessive robinow syndrome (268310) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also autosomal recessive sick sinus syndrome (sss1, 608567) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also autosomal recessive sick sinus syndrome (sss1, 608567) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also benign familial infantile convulsions (bfic1, 601764) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also benign familial infantile convulsions (bfic1, 601764) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also benign familial neonatal-infantile convulsions (bfnis, 607745), which shows some phenotypic similarities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also benign neonatal epilepsy (ebn1, 121200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also benign neonatal epilepsy (ebn1, 121200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also cblc (277400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also cblc (277400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also cbld (277410) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also cbld (277410) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also chromosome 2q32-q33 deletion syndrome (612313) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also chromosome 2q32-q33 deletion syndrome (612313) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also cmtx1 (302800) and cmt3x (302802) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also cmtx1 (302800) and cmt3x (302802) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also cmtx1 (302800) and cmtx2 (302801) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also cmtx1 (302800) and cmtx2 (302801) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also congenital stiff person syndrome (149400) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also congenital stiff person syndrome (149400) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also da2b (601680), which is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also da2b (601680), which is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also dent disease 2 (300555) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also dent disease 2 (300555) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also distal hmn2a (158590) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also distal hmn2a (158590) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also dominant deb (131750), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also dominant deb (131750), an allelic disorder with a less severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also dominant deb (131750), an allelic disorder with a similar phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also dominant deb (131750), an allelic disorder with a similar phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also dyggve-melchior-clausen disease (223800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also dyggve-melchior-clausen disease (223800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also dyssegmental dysplasia, silverman-handmaker type (224410) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also dyssegmental dysplasia, silverman-handmaker type (224410) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also ecyt2 (263400) and ecyt3 (609820) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also ecyt2 (263400) and ecyt3 (609820) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also erythrocytosis 1 (ecyt1, 133100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also erythrocytosis 1 (ecyt1, 133100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also facial hemihypertrophy (133900) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also facial hemihypertrophy (133900) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also familial developmental dysphasia (600117) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also familial developmental dysphasia (600117) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also febrile seizures (feb1, 121210) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also febrile seizures (feb1, 121210) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also french-canadian type of leigh syndrome (220111) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also french-canadian type of leigh syndrome (220111) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also gaucher disease type iii (231000), which is much less severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also gaucher disease type iii (231000), which is much less severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also griscelli syndrome type 1 (214450) for a similar disorder without immunological abnormalities and griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also griscelli syndrome type 1 (214450) for a similar disorder without immunological abnormalities and griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome. --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome. | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also hmn2b (608634) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also hmn2b (608634) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also infantile (600649) and late-onset (255110) cpt ii deficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also infantile (600649) and late-onset (255110) cpt ii deficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also junctional eb with pyloric atresia (226730) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also junctional eb with pyloric atresia (226730) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also later childhood-onset form (300718) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also later childhood-onset form (300718) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also leptin deficiency (614962) and summary information in bmiq1 (606641) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also lethal neonatal (608836) and adult forms (255110) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also lethal neonatal (608836) and adult forms (255110) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also mmab (251110) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also mmab (251110) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also more severe phenotype peeling skin syndrome (270300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also more severe phenotype peeling skin syndrome (270300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also oca1a (203100) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also oca1a (203100) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also optic atrophy 1 (165500), an allelic disorder without deafness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also optic atrophy 1 (165500), an allelic disorder without deafness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also optic atrophy with deafness (125250), an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also optic atrophy with deafness (125250), an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also pachyonychia congenita, type 3 (pc1, 167200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also pachyonychia congenita, type 3 (pc1, 167200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also peeling skin syndrome, acral type (609796) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also peeling skin syndrome, acral type (609796) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also perinatal lethal variant (608013), which is more severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also perinatal lethal variant (608013), which is more severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also pfm3 on chromosome 4q21-q23 (609566) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also pfm3 on chromosome 4q21-q23 (609566) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also pgl1 (168000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also pgl1 (168000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also pseudohypoparathyroidism type ia (103580) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also pseudohypoparathyroidism type ia (103580) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also pseudohypoparathyroidism type ia (php1a, 103580) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also pseudohypoparathyroidism type ia (php1a, 103580) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also pseudohypoparathyroidism type ib (603233) and ic (612462) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also pseudopseudohypoparathyroidism (612463) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also pseudopseudohypoparathyroidism (612463) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also recessive deb (226600), an allelic disorder with a more severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also recessive deb (226600), an allelic disorder with a more severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also severe, early-onset form (300717) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also severe, early-onset form (300717) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also simplex eb with pyloric atresia (612138) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also simplex eb with pyloric atresia (612138) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also the autosomal recessive form (243000) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also the autosomal recessive form (243000) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also the lethal neonatal (608836) and infantile (600649) forms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also the lethal neonatal (608836) and infantile (600649) forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also the non-herlitz type of jeb (226650), a less severe disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also the non-herlitz type of jeb (226650), a less severe disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also the x-linked form (300291) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also the x-linked form (300291) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also two x-linked forms 300633 and 300758 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also two x-linked forms 300633 and 300758 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also x-linked (310400) and autosomal dominant (160150) forms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also x-linked (310400) and autosomal dominant (160150) forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also x-linked dominant form (300652) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also x-linked dominant form (300652) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also x-linked edmd (310300) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also x-linked edmd (310300) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also x-linked leigh syndrome (312170) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also x-linked leigh syndrome (312170) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see cmt4a (214400) for autosomal recessive demyelinating forms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see cmt4a (214400) for autosomal recessive demyelinating forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see ebn1 (121200) for an autosomal dominant form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see ebn1 (121200) for an autosomal dominant form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see entry 104300 for general information on alzheimer disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see entry 104300 for general information on alzheimer disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see recessive form optb4 (611490) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see recessive form optb4 (611490) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:see the more common methemoglobinemia types i and ii (250800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:see the more common methemoglobinemia types i and ii (250800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seen more frequently in infants of diabetic mothers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seen more frequently in infants of diabetic mothers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:segmental distribution often affecting 1 limb --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:segmental distribution often affecting 1 limb | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizure frequency decreases during early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizure frequency decreases during early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizure onset after 3 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizure onset after 3 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizure onset at a mean of 14 months (range 6 to 36 months) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizure onset at a mean of 14 months (range 6 to 36 months) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizure onset between 3 and 11 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizure onset between 3 and 11 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizure onset in first months or years of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizure onset in first months or years of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizure severity and frequency tend to improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizure severity and frequency tend to improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures and cognitive involvement are variable findings --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures and cognitive involvement are variable findings | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures and dystonia peak during childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures and dystonia peak during childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are easily controlled by medications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are easily controlled by medications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are fever-sensitive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are fever-sensitive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are followed by drowsiness in most cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are followed by drowsiness in most cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are often refractory --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are often refractory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are poorly responsive to treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are poorly responsive to treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are provoked by immersion in hot or warm water --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are provoked by immersion in hot or warm water | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are refractory --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are refractory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are refractory to medication --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are refractory to medication | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are refractory to treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are refractory to treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are responsive to pyridoxine treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are responsive to pyridoxine treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are sensitive to hyperventilation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are sensitive to hyperventilation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are usually intractable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are usually intractable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are usually refractory --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are usually refractory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures are usually refractory at first --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures are usually refractory at first | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures become nearly continuous --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures become nearly continuous | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures easily controlled by medications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures easily controlled by medications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures last about 30 seconds to 3 minutes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures last about 30 seconds to 3 minutes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may be refractory --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may be refractory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may be refractory to treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may be refractory to treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may be triggered by infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may be triggered by infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may occur upon awakening or at any time during the day --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may occur upon awakening or at any time during the day | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may occur with illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may occur with illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may persist into adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may persist into adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may remit in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may remit in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may remit later in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may remit later in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures may remit with age (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures may remit with age (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures occur upon awakening --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures occur upon awakening | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures precipitated by fatigue or alcohol --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures precipitated by fatigue or alcohol | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures recur in 33% of patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures recur in 33% of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures remit by age 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures remit by age 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures remit in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures remit in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures remit in later childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures remit in later childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures resolve by 4 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures resolve by 4 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures tend to become more focal with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures tend to become more focal with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures tend to occur upon awakening --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures tend to occur upon awakening | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures tend to remit later in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures tend to remit later in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures usually occur in the first months of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures usually occur in the first months of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures usually remit in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures usually remit in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures usually remit spontaneously by 12 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures usually remit spontaneously by 12 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seizures, recurrent, refractory --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seizures, recurrent, refractory | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sensory loss is rapidly progressive and severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sensory loss is rapidly progressive and severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:serum triglycerides decrease with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:serum triglycerides decrease with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 11:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 69:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seven patients from 4 families in israel have been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seven patients from 4 families in israel have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seven patients reported (as of march 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seven patients reported (as of march 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seventy percent of cases are stillborn --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seventy percent of cases are stillborn | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:seventy percent of cases have associated anomalies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:seventy percent of cases have associated anomalies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:several forms of autosomal recessive spastic paraplegia (see 270800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:several forms of autosomal recessive spastic paraplegia (see 270800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe clinical course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe clinical course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe epilepsy may lead to early death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe epilepsy may lead to early death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe form with onset at 3 to 4 months of age and severe developmental delay --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe form with onset at 3 to 4 months of age and severe developmental delay | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe hearing loss by age 50 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe hearing loss by age 50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe heat intolerance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe heat intolerance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe hypertension develops in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe hypertension develops in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe infantile cases usually die by 6 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe infantile cases usually die by 6 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe infantile form presents before 6 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe infantile form presents before 6 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe infections in untreated patients with neutropenia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe infections in untreated patients with neutropenia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe involvement of legs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe involvement of legs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe neurodegenerative course resulting in a comatose state or death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe neurodegenerative course resulting in a comatose state or death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe phenotype onset - neonate --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe phenotype onset - neonate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe volume depletion --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe volume depletion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severely affected individuals may carry 2 mutated alleles --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severely affected individuals may carry 2 mutated alleles | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severity of clinical phenotype varies both within and between kindreds --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severity of clinical phenotype varies both within and between kindreds | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severity of hematologic disorder decreases with advancing age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severity of hematologic disorder decreases with advancing age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severity of phenotype is not related to residual enzyme activity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severity of phenotype is not related to residual enzyme activity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severity of phenotype may vary with x-inactivation patterns and/or mutation type --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severity of phenotype may vary with x-inactivation patterns and/or mutation type | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:severity of skin symptoms may vary within families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:severity of skin symptoms may vary within families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sex ratio - 2 females to 1 male --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sex ratio - 2 females to 1 male | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sex ratio - 2.3 males-to-1 female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sex ratio - 2.3 males-to-1 female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sex ratio of 4-4.5 males to 1 female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sex ratio of 4-4.5 males to 1 female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:shields classification - --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:shields classification - | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:short limbs become more apparent during childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:short limbs become more apparent during childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:short stepped shuffling gait --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:short stepped shuffling gait | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sib a developed symptoms after routine mmr vaccination --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sib a developed symptoms after routine mmr vaccination | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sib b did not receive mmr vaccination and was asymptomatic in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sib b did not receive mmr vaccination and was asymptomatic in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:significant clinical overlap with sotos syndrome (117550) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:significant clinical overlap with sotos syndrome (117550) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:significant number of patients are stillborn or die in neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:significant number of patients are stillborn or die in neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:significant phenotypic variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:significant phenotypic variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:signs and symptoms depend on tumor location and activity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:signs and symptoms depend on tumor location and activity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:similar clinical phenotype to edsiii (130020) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:similar clinical phenotype to edsiii (130020) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:similar phenotype to x-linked hypophosphatemia (xlh, 307800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:similar to infantile neuroaxonal dystrophy (inad, 256600) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:similar to infantile neuroaxonal dystrophy (inad, 256600) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:simple febrile seizures usually remit by age 6 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:simple febrile seizures usually remit by age 6 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:single lesions in sporadic cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:single lesions in sporadic cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:single mitochondrial dna deletions are found in sporadic kss patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:single mitochondrial dna deletions are found in sporadic kss patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sister of affected male siblings had mild learning disabilities and obesity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sister of affected male siblings had mild learning disabilities and obesity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:six genetically confirmed patients have been reported (as of december 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:six genetically confirmed patients have been reported (as of december 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:six patients from 1 saudi arabian family have been reported (last curated december 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:six patients from 1 saudi arabian family have been reported (last curated december 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:six patients from 4 families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:six patients from 4 families have been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:six patients have been reported (5/18/2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:six patients have been reported (5/18/2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:six patients have been reported (as of july 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:six patients have been reported (as of july 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:six patients reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:six patients reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skeletal abnormalities are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skeletal abnormalities are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skeletal and endocrine features have not been fully characterized in all of the patients reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skeletal and endocrine features have not been fully characterized in all of the patients reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skeletal features are variably present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skeletal features are variably present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skewed x-inactivation in carriers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skewed x-inactivation in carriers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin abnormalities can be present at birth or appear later in infancy or childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin abnormalities can be present at birth or appear later in infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin abnormalities tend to decrease with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin abnormalities tend to decrease with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin and hair abnormalities apparent at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin and hair abnormalities apparent at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin appears normal at birth, with development of generalized ichthyosis in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin appears normal at birth, with development of generalized ichthyosis in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin blistering and photosensitivity improve in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin blistering and photosensitivity improve in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin changes are progressive in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin changes are progressive in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin changes have onset in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin changes have onset in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin erythroderma may resolve early, leaving atrophic lesions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin erythroderma may resolve early, leaving atrophic lesions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesion appear shortly after birth and tend to disappear in young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesion appear shortly after birth and tend to disappear in young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesions are fully penetrant by second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesions are fully penetrant by second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesions are primarily trauma-induced but occasionally appear spontaneously --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesions are primarily trauma-induced but occasionally appear spontaneously | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesions exacerbated by heat, exercise (sweating), and sunlight --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesions exacerbated by heat, exercise (sweating), and sunlight | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesions improve in the summer --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesions improve in the summer | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesions manifest in the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesions manifest in the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesions on back, face, nape of neck, and waist tend to be mild --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesions on back, face, nape of neck, and waist tend to be mild | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesions resolve between 6 months and 2 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesions resolve between 6 months and 2 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesions tend to occur on distal extremities or at elbows and knees --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesions tend to occur on distal extremities or at elbows and knees | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin lesions worsen with heat or sun exposure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin lesions worsen with heat or sun exposure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin manifestation less frequently observed in cold climates --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin manifestation less frequently observed in cold climates | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin manifestations may not be present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin manifestations may not be present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin neoplasia may appear later in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin neoplasia may appear later in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin peeling exacerbated by heat, friction, and humidity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin peeling exacerbated by heat, friction, and humidity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:skin wrinkling improves with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:skin wrinkling improves with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slc25a4 mutations account for approximately 4% of all peo cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slc25a4 mutations account for approximately 4% of all peo cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sleep disturbance or sleep apnea (obstructive, central, or mixed) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sleep disturbance or sleep apnea (obstructive, central, or mixed) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sleep terrors usually remit during adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sleep terrors usually remit during adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sleepwalking triggered by alcohol, sleep deprivation, stress --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sleepwalking triggered by alcohol, sleep deprivation, stress | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sleepwalking usually remits in adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sleepwalking usually remits in adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slight increased risk for malignancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slight increased risk for malignancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slightly increased female:male ratio (1.4:1 to 2:1) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slightly increased female:male ratio (1.4:1 to 2:1) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slow course of functional deterioration compared to severity of mri findings --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slow course of functional deterioration compared to severity of mri findings | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slow or nonprogressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slow or nonprogressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slow progression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slow progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slow progression without marked disability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slow progression without marked disability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slow, progressive growth, then stable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slow, progressive growth, then stable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slowly or non-progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slowly or non-progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slowly or nonprogressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slowly or nonprogressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slowly progressive disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slowly progressive disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:slowly progressive or nonprogressive course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:slowly progressive or nonprogressive course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:smaller repeat lengths in younger generations (reverse anticipation) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:smaller repeat lengths in younger generations (reverse anticipation) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:solitary disease is more common in males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:solitary disease is more common in males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:somatic mosaicism has been observed in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:somatic mosaicism has been observed in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:somatic mutations occur in adrenal tumor tissue (601639.0001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:somatic mutations occur in adrenal tumor tissue (601639.0001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:somatic or germline mosaicism may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:somatic or germline mosaicism may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some affected family members are asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some affected family members are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some affected individuals have normal subsequent development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some affected individuals have normal subsequent development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some carrier females have episodes of significant hyperammonemia in infancy or childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some carrier females have episodes of significant hyperammonemia in infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some carrier females have mild features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some carrier females have mild features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some carrier females may manifest mild symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some carrier females may manifest mild symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some familial occurrence, most de novo aberrations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some familial occurrence, most de novo aberrations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some families have axonal cmt (cmt2m) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some families have axonal cmt (cmt2m) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some features are variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some features are variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some features are variable, even within families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some features are variable, even within families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some features are variably expressed --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some features are variably expressed | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some features are variably present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some features are variably present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some features may be progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some features may be progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some features may be variable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some features may be variable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some features not found in all patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some features not found in all patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some female carriers are more mildly affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some female carriers are more mildly affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some female patients can conceive after administration of gonadotropins --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some female patients can conceive after administration of gonadotropins | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some females are affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some females are affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some heterozygotes may have increased urinary excretion of cystine and may develop stones --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some heterozygotes may have increased urinary excretion of cystine and may develop stones | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some heterozygous carriers exhibit accelerated age-related hearing loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some heterozygous carriers exhibit accelerated age-related hearing loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some heterozygous carriers may have mild manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some heterozygous carriers may have mild manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some heterozygous cpt2 mutation carriers may be symptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some heterozygous cpt2 mutation carriers may be symptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some individuals may be clinically asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some individuals may be clinically asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some laboratory abnormalities may fluctuate or improve with time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some laboratory abnormalities may fluctuate or improve with time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some more severely affected patients may die in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some more severely affected patients may die in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some mutation carriers have mild features of frontonasal dysplasia (613451) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some mutation carriers have mild features of frontonasal dysplasia (613451) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients acquire late ambulation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients acquire late ambulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients are asymptomatic and detected only by newborn screening --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients are asymptomatic and detected only by newborn screening | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients are asymptomatic and diagnosed incidentally --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients are asymptomatic and diagnosed incidentally | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients are clinically unaffected. --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients are clinically unaffected. | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients become bedridden --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients become bedridden | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients become wheelchair-bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients become wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients become wheelchair-bound in second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients become wheelchair-bound in second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients can attend special school --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients can attend special school | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients can be treated with large doses of vitamin d and calcium --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients can be treated with large doses of vitamin d and calcium | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients can hold menial jobs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients can hold menial jobs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients carry heterozygous mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients carry heterozygous mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients develop diabetes mellitus as adolescents --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients develop diabetes mellitus as adolescents | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients develop ophthalmoplegia in middle age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients develop ophthalmoplegia in middle age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients do not achieve independent ambulation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients do not achieve independent ambulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients do not develop renal failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients do not develop renal failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients do not develop stroke --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients do not develop stroke | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients do not have bone disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients do not have bone disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients do not have dysmorphic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients do not have dysmorphic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients do not have thin corpus callosum --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients do not have thin corpus callosum | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients do not manifest renal disease in the first decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients do not manifest renal disease in the first decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients do not reach end-stage renal failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients do not reach end-stage renal failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients do not show neurologic abnormalities or dysmorphic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients do not show neurologic abnormalities or dysmorphic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients exhibit features of more than 1 type of cardiomyopathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients exhibit features of more than 1 type of cardiomyopathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients experience later reversal of hypogonadotropic hypogonadism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients experience later reversal of hypogonadotropic hypogonadism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients experience respiratory infections in association with episodes of jaundice in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients experience respiratory infections in association with episodes of jaundice in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have a crouzon-like appearance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have a crouzon-like appearance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have a milder nonprogressive phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have a milder nonprogressive phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have a secreted but biologically inactive mutant leptin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have a secreted but biologically inactive mutant leptin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have a severe phenotype with neurologic manifestations beginning at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have a severe phenotype with neurologic manifestations beginning at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have additional neurologic involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have additional neurologic involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have an attenuated phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have an attenuated phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have asymptomatic hypocalcemia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have asymptomatic hypocalcemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have cessation of seizures at a mean of 12 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have cessation of seizures at a mean of 12 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have isolated cfeom --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have isolated cfeom | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have juvenile-onset myoclonic epilepsy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have juvenile-onset myoclonic epilepsy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have later onset and more variable phenotype (mngie) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have later onset and more variable phenotype (mngie) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have later onset of the disorder as young adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have later onset of the disorder as young adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have lethal fetal akinesia with death in utero --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have lethal fetal akinesia with death in utero | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have milder persistent blistering --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have milder persistent blistering | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have no clinical symptoms and are detected by routine newborn screening --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have no clinical symptoms and are detected by routine newborn screening | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have no manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have no manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have no neurologic abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have no neurologic abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have no or mild manifestations and normal development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have no or mild manifestations and normal development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have only ocular involvement or only oral involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have only ocular involvement or only oral involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have only plantar surface involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have only plantar surface involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have persistence of seizures to adulthood, but then show remission --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have persistence of seizures to adulthood, but then show remission | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients have subclinical exocrine pancreatic deficiency --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients have subclinical exocrine pancreatic deficiency | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may be asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may be asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may be asymptomatic and have only short telomeres --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may be asymptomatic and have only short telomeres | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may be clinically asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may be clinically asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may become bedridden 10 to 20 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may become bedridden 10 to 20 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may become wheelchair-bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may become wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may benefit from coenzyme q10 treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may benefit from coenzyme q10 treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may develop concurrent failure to thrive and dyslipidemia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may develop concurrent failure to thrive and dyslipidemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may develop interictal progressive ataxia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may develop interictal progressive ataxia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may die from cardiomyopathy in the first or second decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may die from cardiomyopathy in the first or second decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may have a milder phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may have a milder phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may have a more protracted disorder with neurodegeneration --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may have a more protracted disorder with neurodegeneration | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may have isolated cardiac involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may have isolated cardiac involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may have isolated myokymia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may have isolated myokymia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may have normal brain imaging --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may have normal brain imaging | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may have normal development until onset of seizures in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may have normal development until onset of seizures in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may have normal psychomotor development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may have normal psychomotor development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may have residual muscle weakness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may have residual muscle weakness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may live to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may live to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may need surgery or renal transplant --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may need surgery or renal transplant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may not achieve walking --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may not achieve walking | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may not have recurrent infections --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may not have recurrent infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may present with adult-onset small fiber neuropathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may present with adult-onset small fiber neuropathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may respond to thiamine treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may respond to thiamine treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may show deterioration with infections --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may show deterioration with infections | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may show mild decrease in head circumference over time --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may show mild decrease in head circumference over time | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may show neurologic improvement late in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may show neurologic improvement late in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients may show response to immunosuppressive agents --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients may show response to immunosuppressive agents | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients never achieve sitting --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients never achieve sitting | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients never achieve walking or running --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients never achieve walking or running | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients present with spasticity, whereas others present with cerebellar ataxia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients present with spasticity, whereas others present with cerebellar ataxia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients report cyclical changes in severity of symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients report cyclical changes in severity of symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients report increased tolerance to heat --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients report increased tolerance to heat | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients report seasonal variation in symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients report seasonal variation in symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients require cardiac transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients require cardiac transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients require insulin for treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients require insulin for treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients respond to acetazolamide --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients respond to acetazolamide | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients show delayed development from birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show delayed development from birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients show improvement in muscle power in the teenage years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show improvement in muscle power in the teenage years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients show infantile onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show infantile onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients show no bleeding abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show no bleeding abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients show normal development until onset of disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show normal development until onset of disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients show onset in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show onset in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients show onset later in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show onset later in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients show rapid disease progression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show rapid disease progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients show significant clinical improvement with riboflavin supplementation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients show significant clinical improvement with riboflavin supplementation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients survive infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients survive infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients with heterozygous mutations may be symptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients with heterozygous mutations may be symptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some pedigrees are consistent with autosomal dominant inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some pedigrees are consistent with autosomal dominant inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some people with a cnnm2 mutation are asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some people with a cnnm2 mutation are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some phenotypic overlap with rett syndrome (312750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some phenotypic overlap with rett syndrome (312750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some response to l-dopa therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some response to l-dopa therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sparing of some nails in some individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sparing of some nails in some individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spasticity is slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spasticity is slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spasticity occurs before parkinsonism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spasticity occurs before parkinsonism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spectrum of laterality defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spectrum of laterality defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spinal involvement improves with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spinal involvement improves with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spinal tumors are necessary for diagnosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spinal tumors are necessary for diagnosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:splenectomy increases thrombotic risk in these patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:splenectomy increases thrombotic risk in these patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneous bleeding is rare --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneous bleeding is rare | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneous improvement or resolution of skin creases in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneous improvement or resolution of skin creases in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneous resolution by 12 months of age with no recurrence later in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneous resolution by 12 months of age with no recurrence later in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneous resolution of seizures by 12 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneous resolution of seizures by 12 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneous resolution usually after 12 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneous resolution usually after 12 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneous resorption (rare) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneous resorption (rare) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneous reversal of gnrh deficiency may occur in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneous reversal of gnrh deficiency may occur in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneous tumor regression may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneous tumor regression may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spontaneously resolves by 5 to 6 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spontaneously resolves by 5 to 6 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sporadic cases often single lesions versus multiple lesions in familial cases --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sporadic cases often single lesions versus multiple lesions in familial cases | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sporadic occurrence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sporadic occurrence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sporadic occurrence is associated with advanced paternal age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sporadic occurrence is associated with advanced paternal age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:spots occur in 95% of patients but can be absent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:spots occur in 95% of patients but can be absent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stable or slowly progressive course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stable or slowly progressive course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stage ii, rapid developmental regression (onset 1-4 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stage ii, rapid developmental regression (onset 1-4 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stage iii, pseudostationary period (onset 2-10 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stage iii, pseudostationary period (onset 2-10 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stage iv, late motor deterioration (when ambulation ceases) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stage iv, late motor deterioration (when ambulation ceases) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:static or slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:static or slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:static, nonprogressive disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:static, nonprogressive disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stillbirth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stillbirth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stillborn or death in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stillborn or death in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stillborn or death shortly after birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stillborn or death shortly after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stillborn or infantile death usual in prenatal form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stillborn or infantile death usual in prenatal form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:stillborn or lethal in the neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:stillborn or lethal in the neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:striking intrafamilial variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:striking intrafamilial variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:subclavian artery supply disruption in embryogenesis has been suggested as etiology --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subclavian artery supply disruption in embryogenesis has been suggested as etiology | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:subset of patients have cytochrome c oxidase deficiency (see 220110) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subset of patients have cytochrome c oxidase deficiency (see 220110) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:subset of patients have french-canadian leigh syndrome (220111) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subset of patients have french-canadian leigh syndrome (220111) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:subtle facial phenotype compared to other types of hpe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subtle facial phenotype compared to other types of hpe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:subtle personality and behavioral changes are presenting signs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subtle personality and behavioral changes are presenting signs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:subtype 3c (231005) comprises cardiovascular calcifications --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subtype 3c (231005) comprises cardiovascular calcifications | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:subtype of migraine with aura --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:subtype of migraine with aura | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:successful treatment with oral isotretinoin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:successful treatment with oral isotretinoin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden cardiac death frequent in affected families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden cardiac death frequent in affected families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden cardiac death in some families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden cardiac death in some families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden death due to cardiac arrhythmia may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden death due to cardiac arrhythmia may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden death due to cardiomyopathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden death due to cardiomyopathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden death in affected females occurs in the forties --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden death in affected females occurs in the forties | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden death in affected males occurs in teens --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden death in affected males occurs in teens | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden death may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden death may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden death secondary to impaction of medulla oblongata --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden death secondary to impaction of medulla oblongata | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden infant death may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden infant death may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:sudden infantile death may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:sudden infantile death may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:supervisor review:impression/interpretation of study:point in time:to be specified in another part of the message:nominal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:surgical intervention is not always curative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:surgical intervention is not always curative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survival 30 to 40 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survival 30 to 40 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survival greater than one year rare --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survival greater than one year rare | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survival past infancy is rare --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survival past infancy is rare | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survival to 10 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survival to 10 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survival to 20 years in severe form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survival to 20 years in severe form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survival to 20s-60s in iib --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survival to 20s-60s in iib | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survival to 5-15 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survival to 5-15 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survival to advanced age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survival to advanced age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:surviving infants develop severe nonbullous ichthyosiform erythroderma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:surviving infants develop severe nonbullous ichthyosiform erythroderma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survivors develop dysautonomia-like symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survivors develop dysautonomia-like symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350)) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:survivors may develop renal insufficiency and hepatic dysfunction --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:survivors may develop renal insufficiency and hepatic dysfunction | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:susceptibility to infections start in the first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:susceptibility to infections start in the first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:susceptibility to infections starts in the first week of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:susceptibility to infections starts in the first week of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:swelling starts to fade by age 30 years and gradually becomes unremarkable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:swelling starts to fade by age 30 years and gradually becomes unremarkable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptom onset ranges from infancy to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptom onset ranges from infancy to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptomatic female carriers have been described in 1 japanese family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptomatic female carriers have been described in 1 japanese family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptomatic if > 200 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptomatic if > 200 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms ameliorate with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms ameliorate with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms appear in early childhood and are progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms appear in early childhood and are progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms are aggravated by febrile illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms are aggravated by febrile illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms are not apparent at rest --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms are not apparent at rest | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms are not relieved by alcohol --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms are not relieved by alcohol | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms are often responsive to alcohol --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms are often responsive to alcohol | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms are responsive to cobalamin treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms are responsive to cobalamin treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms begin focally, later segmental or generalized --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms begin focally, later segmental or generalized | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms benefit from sleep --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms benefit from sleep | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms can be prevented by strict dietary restriction --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms can be prevented by strict dietary restriction | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms develop immediately after birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms develop immediately after birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms improve during the summer --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms improve during the summer | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms improve following sleep --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms improve following sleep | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms improve with age, resulting in woolly hair with almost normal hair density --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms improve with age, resulting in woolly hair with almost normal hair density | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms induced by strenuous exercise --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms induced by strenuous exercise | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms may be aggravated by acute illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms may be aggravated by acute illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms may be exacerbated by pregnancy or trauma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms may be exacerbated by pregnancy or trauma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms may be precipitated by infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms may be precipitated by infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms may decrease after age 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms may decrease after age 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms noted at 2-3 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms noted at 2-3 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms occur only during sleep --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms occur only during sleep | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms of zinc deficiency occur only in exclusively breastfed infants --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms of zinc deficiency occur only in exclusively breastfed infants | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms often decrease or remit with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms often decrease or remit with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms often improve gradually with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms often improve gradually with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms precipitated by exercise and excitement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms precipitated by exercise and excitement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms precipitated by sudden movement, stress, exertion, fatigue --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms precipitated by sudden movements --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms precipitated by sudden movements | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms present as acute metabolic and clinical decompensation associated with infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms present as acute metabolic and clinical decompensation associated with infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms progress with worsening myopathy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms progress with worsening myopathy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms relieved by ovarian suppression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms relieved by ovarian suppression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms relieved by progesterone antagonist (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms relieved by progesterone antagonist (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms relieved by serotonin antagonist (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms relieved by serotonin antagonist (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms remain focal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms remain focal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms resolve over weeks to months with usually no residual symptoms between attacks --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms resolve over weeks to months with usually no residual symptoms between attacks | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms show insidious onset in the late first through third decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms show insidious onset in the late first through third decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms tend to improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms tend to improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms typically begin in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms typically begin in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms usually appear in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms usually appear in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms usually induced only by strenuous exercise --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms usually induced only by strenuous exercise | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms usually last 30-60 minutes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms usually last 30-60 minutes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms usually occur in adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms usually occur in adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms usually resolve without treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms usually resolve without treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms vary according to location of tumor --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms vary according to location of tumor | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms vary from asymptomatic patients to patients with metabolic acidosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms vary from asymptomatic patients to patients with metabolic acidosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:symptoms worsen with fatigue and exercise --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:symptoms worsen with fatigue and exercise | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:systemic amyloid deposition may occur --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:systemic amyloid deposition may occur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:systemic granulomatous disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:systemic granulomatous disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:systemic iron overload due to ineffective erythropoiesis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:systemic iron overload due to ineffective erythropoiesis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:t-cell lymphopenia is more severe early in life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:t-cell lymphopenia is more severe early in life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:teeth may undergo post-eruptive changes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:teeth may undergo post-eruptive changes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:telangiectases persist in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:telangiectases persist in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:telangiectasia become evident between the second and eighth year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:telangiectasia become evident between the second and eighth year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:temperature instability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:temperature instability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tendency to lighter pigmentation than unaffected relatives --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tendency to lighter pigmentation than unaffected relatives | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the characteristic changes in the spine resolve by adolescence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the characteristic changes in the spine resolve by adolescence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the frequency is estimated at 1/20,000 to 1/50,000 births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the frequency is estimated at 1/20,000 to 1/50,000 births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the lower the s-ado:saicar ratio, the more severe the phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the lower the s-ado:saicar ratio, the more severe the phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the most studied group is efe pygmies from ituri forest in northeast zaire --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the most studied group is efe pygmies from ituri forest in northeast zaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:therapy-induced dyskinesias --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:therapy-induced dyskinesias | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:there are several subtypes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:there are several subtypes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:thiamine supplementation may be beneficial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:thiamine supplementation may be beneficial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:thin, fine hair described in few individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:thin, fine hair described in few individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:this patient died at age 2 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:this patient died at age 2 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:this patient died at age 8 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:this patient died at age 8 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:this specific disorder has been described in 1 family (ke) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:this specific disorder has been described in 1 family (ke) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:thoracic abnormalities tend to improve with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:thoracic abnormalities tend to improve with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:thorax anomaly ameliorates with age (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:thorax anomaly ameliorates with age (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:those with intermediate repeat expansions show reduced penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:those with intermediate repeat expansions show reduced penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three affected sibs have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three affected sibs have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three amish patients have been reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three amish patients have been reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families described (last curated january 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families described (last curated january 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families have been reported (as of 28 june 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families have been reported (as of 28 june 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families have been reported (as of december 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families have been reported (as of december 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families have been reported (as of september 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families have been reported (as of september 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families have been reported (last curated april 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families have been reported (last curated april 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families have been reported (last curated august 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families have been reported (last curated august 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families have been reported (last curated july 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families have been reported (last curated july 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families have been reported (last curated november 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families have been reported (last curated november 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families have been reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families have been reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three families of ashkenazi jewish descent have been reported (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three families of ashkenazi jewish descent have been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three forms of cjd: acquired (including variant), sporadic, and inherited --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three forms of cjd: acquired (including variant), sporadic, and inherited | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three girls from 2 unrelated families have been reported (last curated june 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three girls from 2 unrelated families have been reported (last curated june 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three main clinical forms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three main clinical forms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three main phenotypes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three main phenotypes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three major clinical forms are apparent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three major clinical forms are apparent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three males in 1 family have been reported (last curated august 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three males in 1 family have been reported (last curated august 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three out of 4 reported patients died (last curated may 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three out of 4 reported patients died (last curated may 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients (2 related) reported (last curated march 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients (2 related) reported (last curated march 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients from 1 french canadian family have been reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients from 1 french canadian family have been reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients from 1 mexican family has been reported (last curated april 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients from 1 mexican family has been reported (last curated april 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients from 2 families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients from 2 families have been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients from 2 unrelated families have been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients from 2 unrelated families have been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients from 2 unrelated families have been reported (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients from 2 unrelated families have been reported (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients have been described (last curated january 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients have been described (last curated january 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients have been reported (as of august 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients have been reported (as of august 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients have been reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients have been reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients have been reported (as of november 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients have been reported (as of november 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients have been reported (as of october 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients have been reported (as of october 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients reported, one with a wdpcp mutation (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients reported, one with a wdpcp mutation (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three sibs born of consanguineous arab parents have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three sibs in one consanguineous iranian family have been described (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three sibs in one consanguineous iranian family have been described (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three times more common in males --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three times more common in males | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three types of cystinosis are recognized --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three types of cystinosis are recognized | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated caucasian patients have been reported (as of january 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated caucasian patients have been reported (as of january 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (as of june 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (as of june 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (last curated june 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated june 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated families have been reported (last curated september 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated families have been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated french families have been reported (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated french families have been reported (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated girls have been reported (as of july 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated girls have been reported (as of july 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated males have been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated males have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated patients have been reported (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated patients have been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated patients have been reported (last curated january 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated january 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated patients have been reported (last curated july 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated july 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated patients have been reported (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated patients have been reported (last curated may 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated may 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated patients have been reported (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated patients have been reported (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients have been reported (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated patients with the same de novo mutation have been reported (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three unrelated probands have been reported (last curated january 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three unrelated probands have been reported (last curated january 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:thromboembolism is the most common cause of death --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:thromboembolism is the most common cause of death | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:thyroid carcinoma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:thyroid carcinoma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:time of analysis:tmstp:pt:xxx:qn --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:time of analysis:tmstp:pt:xxx:qn | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tooth agenesis ranges from 1 missing tooth to marked oligodontia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tooth agenesis ranges from 1 missing tooth to marked oligodontia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:torso and upper body remain normal in shape and contour --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:torso and upper body remain normal in shape and contour | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:toxicologist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:trauma may accelerate symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:trauma may accelerate symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:trauma, anxiety, and/or stress can precipitate or aggravate edema --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:trauma, anxiety, and/or stress can precipitate or aggravate edema | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:trauma, im injection, surgery can be foci of ectopic ossification --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:trauma, im injection, surgery can be foci of ectopic ossification | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with betaine, especially for pyridoxine nonresponders --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with betaine, especially for pyridoxine nonresponders | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with bh4 is effective --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with bh4 is effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with coq10 may result in some clinical improvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with coq10 may result in some clinical improvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with dichloroacetate (dca) prolongs survival --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with dichloroacetate (dca) prolongs survival | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with enzyme replacement therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with enzyme replacement therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with folinic acid offers some benefit for anemia and seizure control --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with folinic acid offers some benefit for anemia and seizure control | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with levodopa is not effective --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with levodopa is not effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with oral coenzyme q may ameliorate symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with oral coenzyme q may ameliorate symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with riboflavin has been helpful in some patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with riboflavin has been helpful in some patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with serine and glycine replacement may alleviate features if started at birth --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with serine and glycine replacement may alleviate features if started at birth | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with tnf inhibitors may be beneficial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with tnf inhibitors may be beneficial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:treatment with vitamin d and phosphate is effective --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:treatment with vitamin d and phosphate is effective | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tremor is aggravated by emotional stress --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tremor is aggravated by emotional stress | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tremor is aggravated by low glucose or light --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tremor is aggravated by low glucose or light | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tremor may be elicited by movement or postural maintenance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tremor may be elicited by movement or postural maintenance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tremors develop after seizures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tremors develop after seizures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:triggered by exercise, fasting, or other metabolic stresses --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:triggered by exercise, fasting, or other metabolic stresses | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:triggered by minor head trauma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:triggered by minor head trauma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:triggers are variable, even within a family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:triggers are variable, even within a family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:truncating mutations in crebbp found in 10% of patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:truncating mutations in crebbp found in 10% of patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tumor predisposition syndrome --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tumor predisposition syndrome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tumor suppressor genes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tumor suppressor genes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tumors are microsatellite stable --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tumors are microsatellite stable | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tumors may show spontaneous regression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tumors may show spontaneous regression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:tumors usually develop between 40 and 60 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:tumors usually develop between 40 and 60 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:twelve or more lesions per eye in individuals over 60 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:twelve or more lesions per eye in individuals over 60 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:twinning due to superfetation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:twinning due to superfetation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two adult sibs have been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two adult sibs have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two affected females have been reported (last curated november 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two affected females have been reported (last curated november 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two affected sibs have been reported (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two affected sibs have been reported (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two arab muslim families have been reported (last curated october 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two arab muslim families have been reported (last curated october 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two autosomal dominant families have been reported (as of may 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two autosomal dominant families have been reported (as of may 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two brothers in a french family have been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two brothers in a french family have been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two chinese sisters and one chinese woman have been described (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two chinese sisters and one chinese woman have been described (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two clinical forms - type i (deficiency of b5r is isolated to erythrocytes) and type ii (deficiency of b5r in all cell types) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two clinical forms - type i (deficiency of b5r is isolated to erythrocytes) and type ii (deficiency of b5r in all cell types) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two consanguineous families with 2 patients each have been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two consanguineous families with 2 patients each have been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two consanguineous families with two affected sibs each have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two consanguineous lebanese families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two consanguineous lebanese families have been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two consanguineous pakistan families have been described --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two consanguineous pakistan families have been described | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two consanguineous turkish families have been reported (as of august 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two consanguineous turkish families have been reported (as of august 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two consanguineous turkish families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two consanguineous turkish families have been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families described (last curated july 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families described (last curated july 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families described (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families described (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families each with two affected children have been reported (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families each with two affected children have been reported (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families from the tamil nedu region of eastern india have been described (last curated november 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (as of 6/2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (as of 6/2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (as of curation date april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (as of curation date april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (as of june 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (as of june 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (as of may 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (as of may 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (last curated december 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (last curated december 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (last curated december 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (last curated december 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families have been reported (september 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families have been reported (september 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families of canadian origin have been reported (last curated may 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families of canadian origin have been reported (last curated may 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families of french-canadian origin have been reported (last curated december 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families of french-canadian origin have been reported (last curated december 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families reported (last curated february 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families reported (last curated february 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families reported (last curated september 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families reported (last curated september 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two families with different phenotypes have been reported (as of september 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two families with different phenotypes have been reported (as of september 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two fetuses have been reported (as of august 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two fetuses have been reported (as of august 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two forms: iia (severe) and iib (mild) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two forms: iia (severe) and iib (mild) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two japanese brothers have been reported (as of september 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two japanese brothers have been reported (as of september 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two japanese families have been reported (as of february 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two japanese families have been reported (as of february 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two japanese patients have been reported (last curated march 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two japanese patients have been reported (last curated march 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two jordanian sibs have been reported (last curated november 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two jordanian sibs have been reported (last curated november 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two loci control synthesis of c4, c4a (120810) and c4b (120820) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two loci control synthesis of c4, c4a (120810) and c4b (120820) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two loci described - eec1 (129900) and eec3 (604292) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two loci described - eec1 (129900) and eec3 (604292) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two main phenotypes, metabolic and neurologic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two main phenotypes, metabolic and neurologic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two main phenotypes, severe and mild --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two main phenotypes, severe and mild | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two main presentations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two main presentations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two mother and child pairs have been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two mother and child pairs have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two of 3 patients became wheelchair-bound --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two of 3 patients became wheelchair-bound | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two of 6 patients became wheelchair-bound by age 20 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two of 6 patients became wheelchair-bound by age 20 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two pakistani families have been reported (last curated december 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two pakistani families have been reported (last curated december 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two pakistani families reported (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two pakistani families reported (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients from 1 italian family have been reported (as of april 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients from 1 italian family have been reported (as of april 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients from spain have been reported (as of january 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients from spain have been reported (as of january 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients have been reported (as of august 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients have been reported (as of august 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients have been reported (as of august 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients have been reported (as of august 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients in one ashkenzai jewish family described (last curated june 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients in one ashkenzai jewish family described (last curated june 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients reported (last curated may 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients reported (last curated may 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients required liver transplantation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients required liver transplantation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients with a wws phenotype have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients with a wws phenotype have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients with point mutations in rad21 have been reported (last curated july 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients with point mutations in rad21 have been reported (last curated july 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two patients without cardiomyopathy or cataracts have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two patients without cardiomyopathy or cataracts have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two peaks of onset, childhood and adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two peaks of onset, childhood and adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two probands have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two probands have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two related patients have been reported (as of november 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two related patients have been reported (as of november 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two siblings of consanguineous turkish parents have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two siblings of consanguineous turkish parents have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sibs and an unrelated fetus have been reported (last curated february 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs and an unrelated fetus have been reported (last curated february 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sibs died before 2 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs died before 2 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sibs have been reported (last curated july 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs have been reported (last curated july 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sibs have been reported (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs have been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sibs have been reported (last curated may 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs have been reported (last curated may 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sibs have been reported (last curated november 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs have been reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sibs have been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs have been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sibs, a boy and a girl, have been reported (as of july 2009) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sibs, a boy and a girl, have been reported (as of july 2009) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sisters have been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sisters have been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sisters have been reported (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sisters have been reported (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two subtypes - seminoma and nonseminoma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two subtypes - seminoma and nonseminoma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two subtypes noninflammatory type a and inflammatory type b --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two subtypes noninflammatory type a and inflammatory type b | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two subtypes, episodic (85% of patients) and chronic (15%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two subtypes, episodic (85% of patients) and chronic (15%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two thirds of patients are female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two thirds of patients are female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two types - lethal neonatal and less severe, late onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two types - lethal neonatal and less severe, late onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two types - severe infantile form (type i) and milder form (type ii) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two types - severe infantile form (type i) and milder form (type ii) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two types of platelet gpiv deficiency - type i, absence gpiv on monocytes (173510.0005) and type ii, presence gpiv on monocytes (173510.0001) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated boys have been reported (last curated october 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated boys have been reported (last curated october 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated boys reported with relatively mild phenotype (last curated may 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated chinese families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated chinese families have been reported (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated chinese families have been reported (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated chinese families have been reported (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated consanguineous families have been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated consanguineous families have been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated consanguineous families have been reported (last curated january 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated consanguineous families have been reported (last curated january 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated consanguineous families have been reported (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated consanguineous families have been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated consanguineous families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated consanguineous families have been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families and 1 isolated patient have been reported (last curated june 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (as of july 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (as of july 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (as of october 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (as of october 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated august 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated august 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated august 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated august 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated december 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated december 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated january 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated january 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated july 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated july 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated june 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated june 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated june 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated june 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated march 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated march 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated may 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated may 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated november 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated november 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated november 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated november 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated november 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated november 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated october 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated october 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated september 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated september 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported (last curated september 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported (last curated september 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported to have hpca mutations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported to have hpca mutations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families of european descent have been reported (last curated may 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families of european descent have been reported (last curated may 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated girls reported (last curated october 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated girls reported (last curated october 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated individuals have been reported (last curated january 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated individuals have been reported (last curated january 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated japanese families have been reported (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated japanese families have been reported (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated japanese patients have been reported (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated japanese patients have been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated japanese patients have been reported (last curated may 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated japanese patients have been reported (last curated may 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated men have been reported (last curated march 2016) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated men have been reported (last curated march 2016) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients had multiple congenital anomalies and died in early infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients had multiple congenital anomalies and died in early infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (as of august 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (as of august 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (as of january 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (as of january 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (as of june 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (as of june 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (as of may 2011) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (as of may 2011) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated april 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated april 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated april 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated april 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated april 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated april 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated august 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated august 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated december 2010) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated december 2010) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated december 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated december 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated december 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated december 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated february 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated february 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated january 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated january 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated july 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated july 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated july 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated july 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated june 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated june 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated june 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated june 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated june 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated june 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated march 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated march 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated may 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated may 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated october 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated october 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated october 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated october 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated october 2015) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated october 2015) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported (last curated september 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported (last curated september 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients reported (last curated september 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients reported (last curated september 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients with classic eds and a mutation in col1a1 (120150.0059) has been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients with confirmed mutations have been reported (as of january 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients with confirmed mutations have been reported (as of january 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients with different phenotypes have been reported (as of march 2012) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients with different phenotypes have been reported (as of march 2012) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients with epileptic encephalopathy have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients with epileptic encephalopathy have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 1 - associated with osteogenesis imperfecta (125490) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 1 - associated with osteogenesis imperfecta (125490) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 1 porencephaly is usually unilateral and results from destructive lesions --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 1 porencephaly is usually unilateral and results from destructive lesions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 2 porencephaly is usually symmetrical and results from developmental malformation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 2 porencephaly is usually symmetrical and results from developmental malformation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 2a is characterized by deficiency of high molecular weight monomers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 2a is characterized by deficiency of high molecular weight monomers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 2b is characterized by increased affinity for platelet glycoprotein 1b --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 2b is characterized by increased affinity for platelet glycoprotein 1b | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 2cb is characterized by defective binding affinity for collagen types i and iii --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 2cb is characterized by defective binding affinity for collagen types i and iii | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 2n is characterized by decreased binding affinity for factor viii --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 2n is characterized by decreased binding affinity for factor viii | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 2n shows autosomal recessive inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 2n shows autosomal recessive inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 3 - brandywine isolate opalescent dentin (125500) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 3 - brandywine isolate opalescent dentin (125500) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type 3: craniosynostosis, early demise, sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type 3: craniosynostosis, early demise, sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type a characterized by progressive myoclonic epilepsy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type a characterized by progressive myoclonic epilepsy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type b characterized by dementia, motor disturbances, and facial dyskinesia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type b characterized by dementia, motor disturbances, and facial dyskinesia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type i has most severe manifestations by age 4-5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type i has most severe manifestations by age 4-5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type i is infantile-onset, severe --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type i is infantile-onset, severe | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type i onset at 8 to 15 months of age after normal development --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type i onset at 8 to 15 months of age after normal development | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type i sialidosis (cherry-red spot/myoclonus syndrome ) - mild disease, no dysmorphic features, onset in second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type ii is adult-onset (kanzaki disease, 609242) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type ii is adult-onset (kanzaki disease, 609242) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type ii is progressive and leads to shortened lifespan --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type ii is progressive and leads to shortened lifespan | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type ii patients are usually japanese and have significant aprt activity (10-25%) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type ii patients are usually japanese and have significant aprt activity (10-25%) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years)) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years)) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type iia tends to have more severe phenotype with earlier onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type iia tends to have more severe phenotype with earlier onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type iii is intermediate form --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type iii is intermediate form | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type iiia has both liver and muscle involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type iiia has both liver and muscle involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:type iiib liver involvement only (15% of all cases) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:type iiib liver involvement only (15% of all cases) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:types of psoriasis include - plaque, guttate, erythrodermic, pustular --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:types of psoriasis include - plaque, guttate, erythrodermic, pustular | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:typical attacks last from seconds to minutes, but longer occurrences have been reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:typical attacks last from seconds to minutes, but longer occurrences have been reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:typical onset in adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:typical onset in adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:typically no physical features of albright hereditary osteodystrophy (aho) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:typically no physical features of albright hereditary osteodystrophy (aho) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:typically sporadic occurrence --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:typically sporadic occurrence | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:u-shaped pattern of temperature-dependent potassium flux (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:u-shaped pattern of temperature-dependent potassium flux (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:u.s. frequency higher in blacks than whites --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:u.s. frequency higher in blacks than whites | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ultrasound detection in second trimester of pregnancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ultrasound detection in second trimester of pregnancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:uncommon and rare features seen in the most severely affected patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:uncommon and rare features seen in the most severely affected patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:uncommon disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:uncommon disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:uniparental disomy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:uniparental disomy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:unusual cabbage-like odor --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:unusual cabbage-like odor | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:unusual skill with jigsaw puzzle --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:unusual skill with jigsaw puzzle | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:up to 50% of patients may have various additional congenital anomalies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:up to 50% of patients may have various additional congenital anomalies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:up to 60% of female mutation carriers develop lobular breast cancer --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:up to 60% of female mutation carriers develop lobular breast cancer | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:upper limb involvement in first decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:upper limb involvement in first decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:upper limb involvement may occur later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:upper limb involvement may occur later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:upper limb involvement occur later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:upper limb involvement occur later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:upper limb involvement usually occurs later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:upper limb involvement usually occurs later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:upper urinary tract usually normal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:upper urinary tract usually normal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:urine turns dark on standing and alkalinization --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:urine turns dark on standing and alkalinization | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:ush3 cases account for 40% of all usher patients in finland --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:ush3 cases account for 40% of all usher patients in finland | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usual age of onset in the 20s and 30s --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usual age of onset in the 20s and 30s | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usual onset before age 6 years and death by age 20 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usual onset before age 6 years and death by age 20 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usual onset under age 30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usual onset under age 30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually a manifestation of the carney complex (cnc1, 1609890) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually a manifestation of the carney complex (cnc1, 1609890) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually a sporadic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually a sporadic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually adult onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually adult onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually affects children --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually affects children | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually begins in feet and legs (peroneal distribution) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually begins in feet and legs (peroneal distribution) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually clinically asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually clinically asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually death in utero or rarely in neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually death in utero or rarely in neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually fatal --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually fatal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually fatal by age 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually fatal by age 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually fatal in first 2 decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually fatal in first 2 decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually fatal in infancy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually fatal in infancy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually fatal within the first few weeks of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually fatal within the first few weeks of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually favorable response to treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually favorable response to treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually follows a static course or is slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually follows a static course or is slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually lethal in the neonatal period --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually lethal in the neonatal period | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually no increased fragility of hair --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually no increased fragility of hair | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually occurs in children younger than 5 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually occurs in children younger than 5 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually occurs in young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually occurs in young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually occurs in young adults --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually occurs in young adults | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually poor response to steroid treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually poor response to steroid treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually presents in third to fourth decade (but onset can range from childhood to elderly) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually presents in third to fourth decade (but onset can range from childhood to elderly) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually sporadic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually sporadic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually sporadic disorder resulting from de novo 22q11.2 deletion --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually sporadic disorder resulting from de novo 22q11.2 deletion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually sporadic, but 1-2% of cases are familial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually sporadic, but 1-2% of cases are familial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:usually sporadic, few cases described with autosomal dominant inheritance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:usually sporadic, few cases described with autosomal dominant inheritance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variability in age of onset and severity of disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variability in age of onset and severity of disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at diagnosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at diagnosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (8 to 62 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (8 to 62 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (birth to adolescence) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (birth to adolescence) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (birth to adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (birth to adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (childhood to adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (childhood to adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (childhood to adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (childhood to adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (childhood to age 50) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (childhood to age 50) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (earliest reported 7 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (earliest reported 7 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (infant to adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (infant to adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 10 to 50 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 10 to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 14 to 50 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 14 to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 15 to 60 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 15 to 60 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 2 to 48 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 2 to 48 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 2 to 59 years, mean 24 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 2 to 59 years, mean 24 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 25 to 78 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 25 to 78 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 4 to 40 years, mostly in first or second decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 4 to 40 years, mostly in first or second decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 6 to 54 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 6 to 54 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 8 to 60 years, mean 32) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 8 to 60 years, mean 32) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range 9 to 78 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range 9 to 78 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range adolescence to late adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range adolescence to late adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range birth to 60 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range birth to 60 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range birth to teenage years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range birth to teenage years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range childhood to adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range childhood to adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range childhood to adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range childhood to adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range childhood to late adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range childhood to late adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range childhood to mid-sixties) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range childhood to mid-sixties) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range first to fourth decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range first to fourth decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range first to third decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range first to third decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range from early childhood to mid-adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range from early childhood to mid-adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range infancy to 30 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range infancy to 30 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range infancy to adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range infancy to adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range infancy to late adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range infancy to late adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range infancy to young adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range infancy to young adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range late infancy to adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range late infancy to adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range prenatal to mid-adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range prenatal to mid-adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range teenage to adult years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range teenage to adult years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (range teens to late adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (range teens to late adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset (usually 20 to 30 years of age) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset (usually 20 to 30 years of age) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset from childhood to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset from childhood to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset of arrhythmia (range 12 to 59 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset of arrhythmia (range 12 to 59 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset of neuropathy (range first to sixth decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset of neuropathy (range first to sixth decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset of seizures --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset of seizures | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset of symptoms (from childhood to the sixth decade of life) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset of symptoms (from childhood to the sixth decade of life) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset of symptoms, from second to fifth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset of symptoms, from second to fifth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset of symptoms, ranging from the second to seventh decades of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset of symptoms, ranging from the second to seventh decades of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, but most often in the first 2 decades --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, but most often in the first 2 decades | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, but usually in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, but usually in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, early childhood to adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, early childhood to adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, from birth to ninth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, from birth to ninth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, from first decade to fourth or fifth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, from first decade to fourth or fifth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, infancy to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, infancy to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, most often in second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, most often in second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, mostly in third decade (range teenage years to fourth decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, mostly in third decade (range teenage years to fourth decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, range from infancy to adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, range from infancy to adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, range infancy to adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, range infancy to adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, ranges from third to fifth decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, ranges from third to fifth decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, ranging from 18 months to 27 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, ranging from 18 months to 27 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, ranging from childhood to adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, ranging from childhood to adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, ranging from childhood to late adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, ranging from childhood to late adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, ranging from prelingual at birth to fifth decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, ranging from prelingual at birth to fifth decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, usually first or second decade --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, usually first or second decade | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, usually in first decade, but can occur later --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, usually in first decade, but can occur later | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (20 to 35 years old) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (20 to 35 years old) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (6 to 35 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (6 to 35 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (childhood to adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (childhood to adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (childhood to adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (childhood to adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (childhood to young adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (childhood to young adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (first to third decades) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (first to third decades) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (infancy to 63 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (infancy to 63 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (range 1 to 30 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (range 1 to 30 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (range 1-40 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (range 1-40 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (range 13 to 67 years, median 48 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (range 13 to 67 years, median 48 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (range 4 to 47 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (range 4 to 47 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (range early childhood to adult) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (range early childhood to adult) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset (range first to third decade) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset (range first to third decade) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset of parkinsonism (first decade to adulthood) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset of parkinsonism (first decade to adulthood) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset of renal manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset of renal manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset, from 6 to 50 years of age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset, from 6 to 50 years of age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset, from early childhood to seventh decade of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset, from early childhood to seventh decade of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable age of onset, ranging from 11 to 50 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable age of onset, ranging from 11 to 50 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable cardiac defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable cardiac defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable cardiac phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable cardiac phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable cataract phenotypes within a family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable cataract phenotypes within a family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable clinical features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable clinical features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable clinical phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable clinical phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable clinical presentation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable clinical presentation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable clinical presentation ranging from acute onset to normal adult --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable clinical presentation ranging from acute onset to normal adult | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable clinical presentation that may change with age --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable clinical presentation that may change with age | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable clinical severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable clinical severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable disease course --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable disease course | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable disease severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable disease severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable distribution, may be focal, segmental, multifocal, or generalized --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable distribution, may be focal, segmental, multifocal, or generalized | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable duration (minutes to hours) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable duration (minutes to hours) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable dysmorphic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable dysmorphic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable expression and severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expression and severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable expression of features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expression of features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable expressivity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expressivity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable expressivity in families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expressivity in families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable expressivity of each feature --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expressivity of each feature | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable expressivity within a family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expressivity within a family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable expressivity, even within families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expressivity, even within families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable expressivity, some patients may be clinically asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable expressivity, some patients may be clinically asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable extraneurologic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable extraneurologic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable facial dysmorphic features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable facial dysmorphic features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable features and severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable features and severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable frequency (2 per day up to 1 per month) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable frequency (2 per day up to 1 per month) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable frequency (daily to monthly) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable frequency (daily to monthly) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable frequency (weekly to yearly) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable frequency (weekly to yearly) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable frequency and duration of episodes --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable frequency and duration of episodes | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable frequency and severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable frequency and severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable heat tolerance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable heat tolerance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable ictal semiology --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable ictal semiology | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable infectious phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable infectious phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable involvement of hematologic parameters --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable involvement of hematologic parameters | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable locations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable locations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable manifestation of features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable manifestation of features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable neurologic phenotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable neurologic phenotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable neuroradiologic findings --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable neuroradiologic findings | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable number of nails involved --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable number of nails involved | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable onset of seizures from neonatal to first year of life --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable onset of seizures from neonatal to first year of life | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable onset, from infancy to young adulthood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable onset, from infancy to young adulthood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable pattern of body involvement although symptoms may predominate in upper or lower body --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable pattern of body involvement although symptoms may predominate in upper or lower body | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable penetrance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable penetrance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable penetrance and expressivity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable penetrance and expressivity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable penetrance of these features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable penetrance of these features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotype (myotonia may or may not be present) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype (myotonia may or may not be present) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotype (range from completely female to males with mild undermasculinization) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype (range from completely female to males with mild undermasculinization) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotype and severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype and severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotype depending on residual enzyme activity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype depending on residual enzyme activity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotype ranging from woolly to sparse hair, even within a single family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype ranging from woolly to sparse hair, even within a single family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotype within and between oi5 families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype within and between oi5 families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotype within families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype within families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotype within families ranging from woolly hair to hypotrichosis --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype within families ranging from woolly hair to hypotrichosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotype, some patients have very mild symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotype, some patients have very mild symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotypic expression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotypic expression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotypic expression within same individual in each eye (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotypic expression within same individual in each eye (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable phenotypic features cataloged depending on development of fetus or infant --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable phenotypic features cataloged depending on development of fetus or infant | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable presentation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable presentation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable presentation and evolution of symptoms --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable presentation and evolution of symptoms | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable presentation and manifestations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable presentation and manifestations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable presentation of clinical features --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable presentation of clinical features | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable progression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable progression rate --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable progression rate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable response to acetazolamide and carbamazepine --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable response to acetazolamide and carbamazepine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable response to acetylcholinesterase inhibitors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable response to acetylcholinesterase inhibitors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable response to levodopa treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable response to levodopa treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable response to steroid treatment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable response to steroid treatment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable response to vitamin b12 therapy --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable response to vitamin b12 therapy | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity (in patients with hsan2d) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity (in patients with hsan2d) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity (mild symptoms to severe handicap) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity (mild symptoms to severe handicap) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity and progression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity and progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity between patients and between eyes (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity between patients and between eyes (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity of brain malformations --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity of brain malformations | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity of phenotype and other features may be present --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity of phenotype and other features may be present | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity of scaling and palmoplantar keratoderma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity of scaling and palmoplantar keratoderma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity that correlates with rate and magnitude of neuronal protein accumulation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity that correlates with rate and magnitude of neuronal protein accumulation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity, correlates with age at onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity, correlates with age at onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity, even within families --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity, even within families | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity, intrafamilial --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity, intrafamilial | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity, ranging from 'typical' to 'severe' disease --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity, ranging from 'typical' to 'severe' disease | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity, ranging from central severe to peripheral to transient --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity, ranging from central severe to peripheral to transient | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable severity, some patients have a protracted course with little neurologic involvement --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable severity, some patients have a protracted course with little neurologic involvement | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable survival --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable survival | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variable survival (some neonatal lethality) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variable survival (some neonatal lethality) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variably expressivity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variably expressivity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variably severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variably severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variant at may present with dystonia only --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variant at may present with dystonia only | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:variation in slc24a5 has also been associated with variation in skin color (shep4) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:variation in slc24a5 has also been associated with variation in skin color (shep4) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:vasculitic symptoms are associated with cold exposure (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:vasculitic symptoms are associated with cold exposure (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:vast majority of heterozygotes are asymptomatic --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:vast majority of heterozygotes are asymptomatic | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:venous malformations previously referred to as angiomas or hemangiomas --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:venous malformations previously referred to as angiomas or hemangiomas | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:very few patients reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:very few patients reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:very rare --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:very rare | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:very slow progression --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:very slow progression | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:very variable phenotype, with some patients having many features and others only a few --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:very variable phenotype, with some patients having many features and others only a few | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:vhl type 1 - renal carcinoma and hemangioblastoma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:vhl type 1 - renal carcinoma and hemangioblastoma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:vhl type 2a - hemangioblastoma and pheochromocytoma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:vhl type 2a - hemangioblastoma and pheochromocytoma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:vhl type 2b - renal carcinoma and pheochromocytoma --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:vhl type 2b - renal carcinoma and pheochromocytoma | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:vhl type 2c - pheochromocytoma only --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:vhl type 2c - pheochromocytoma only | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:virtually all patients are female --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:virtually all patients are female | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:visceral manifestations are less apparent --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:visceral manifestations are less apparent | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:visual acuity better than anticipated from ophthalmoscopic appearance --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:visual acuity better than anticipated from ophthalmoscopic appearance | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:visual acuity varies from 20/20 to no light perception --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:visual acuity varies from 20/20 to no light perception | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:visual and hearing loss are slowly progressive --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:visual and hearing loss are slowly progressive | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:visual field and color defects invariably present only in patients with advanced loss of vision --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:visual field and color defects invariably present only in patients with advanced loss of vision | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:visual symptoms present by late childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:visual symptoms present by late childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:waddling gait --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:waddling gait | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:waddling gait noted at age 15-20 months --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:waddling gait noted at age 15-20 months | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:waddling gait, often presenting sign in second year --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:waddling gait, often presenting sign in second year | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:waddling gate --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:waddling gate | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:walking delay --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:walking delay | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:warm weather and alcohol are alleviating factors --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:warm weather and alcohol are alleviating factors | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wasting of hands often occurs first --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wasting of hands often occurs first | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wasting of the hands is the first and most prominent manifestation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wasting of the hands is the first and most prominent manifestation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:waxing and waning cardiomyopathy (in some patients) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:waxing and waning cardiomyopathy (in some patients) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wheelchair use at 20-30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wheelchair use at 20-30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wheelchair use by 10-30 years --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wheelchair use by 10-30 years | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wheelchair-bound after 2 decades of disease onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wheelchair-bound after 2 decades of disease onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wheelchair-bound average 12 years after onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wheelchair-bound average 12 years after onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:when present, onset of vestibular dysfunction in childhood --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:when present, onset of vestibular dysfunction in childhood | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wide clinical variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wide clinical variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wide phenotypic variability --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wide phenotypic variability | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wide phenotypic variability and severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wide phenotypic variability and severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wide phenotypic variation --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wide phenotypic variation | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wide range of onset from childhood to adult (10 to 50 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wide range of onset from childhood to adult (10 to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wide range of severity between affected members of the same family --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wide range of severity between affected members of the same family | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wide spectrum of severity --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wide spectrum of severity | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:wide variability in severity of limb defects --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:wide variability in severity of limb defects | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:women affected more than men (3:2) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:women affected more than men (3:2) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:women are more often affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:women are more often affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:women may be mildly affected --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:women may be mildly affected | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:worldwide frequency of 1 in 100,000 infants --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:worldwide frequency of 1 in 100,000 infants | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:worldwide frequency of 1 in 2,000,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:worldwide frequency of 1 in 2,000,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:worldwide incidence of 1 in 185,000 live births --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:worldwide incidence of 1 in 185,000 live births | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:worldwide prevalence of 1/100,000 --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:worldwide prevalence of 1/100,000 | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:worsening of hand weakness with cold (in some) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:worsening of hand weakness with cold (in some) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:worsening of symptoms during sleep --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:worsening of symptoms during sleep | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:x-linked inheritance could not be ruled out --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:x-linked inheritance could not be ruled out | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:x-linked recessive cytochrome b-negative cgd --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:x-linked recessive cytochrome b-negative cgd | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:xy karyotype --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:xy karyotype | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:young adult onset --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:young adult onset | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:young adult onset (range 13 to 50 years) --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:young adult onset (range 13 to 50 years) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:young-adult onset (18-30 years) of sensory ataxia --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:young-adult onset (18-30 years) of sensory ataxia | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:younger onset rarely reported --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:younger onset rarely reported | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:z allele most common, only in caucasians --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:z allele most common, only in caucasians | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:zinc deficiency in breastfed offspring resolves after weaning --- r_associated #0: 20 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:zinc deficiency in breastfed offspring resolves after weaning | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 Arthralgie --- r_associated #0: 15 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Arthralgie | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=15 Douleur articulaire --- r_associated #0: 15 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Douleur articulaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=15 Hyde (prurigo nodulaire de) --- r_associated #0: 15 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Hyde (prurigo nodulaire de) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=15 en:hydramnion --- r_associated #0: 15 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hydramnion | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=15 large spectre d'anomalies de la tête du nerf optique, avec des différences interoculaires significatives chez certains patients --- r_associated #0: 15 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=large spectre d'anomalies de la tête du nerf optique, avec des différences interoculaires significatives chez certains patients | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=15 malentendant (enfant) --- r_associated #0: 15 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malentendant (enfant) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=15 moniteur de glucose sanguin avec synthétiseur vocal intégré --- r_associated #0: 15 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=moniteur de glucose sanguin avec synthétiseur vocal intégré | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=15 symptômes autonomes associés aux céphalées --- r_associated #0: 15 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=symptômes autonomes associés aux céphalées | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=15 Polyhydramnios --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Polyhydramnios | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 apparition de tumeurs hématologiques ou du SNC dans la première ou deuxième décennie de vie --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=apparition de tumeurs hématologiques ou du SNC dans la première ou deuxième décennie de vie | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 apparition des tumeurs généralement à l'âge adulte --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=apparition des tumeurs généralement à l'âge adulte | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 certaines tumeurs peuvent être instables sur le plan des microsatellites et porter des mutations somatiques dans les gènes de réparation des mésappariements msh --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=certaines tumeurs peuvent être instables sur le plan des microsatellites et porter des mutations somatiques dans les gènes de réparation des mésappariements msh | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 en:cacomorphosis --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:cacomorphosis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 en:hypoacousic child --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:hypoacousic child | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 hétérozygotes asymptomatiques susceptibles à la toxicité du plomb --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hétérozygotes asymptomatiques susceptibles à la toxicité du plomb | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 intolérance alimentaire --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=intolérance alimentaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 mortinatalité --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=mortinatalité | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 pas de prédisposition au développement de tumeurs cutanées --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=pas de prédisposition au développement de tumeurs cutanées | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 patients développant des tumeurs multiples --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=patients développant des tumeurs multiples | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 perte du gène suppresseur de tumeur --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=perte du gène suppresseur de tumeur | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 polyglucosanes (neuropathie à ) --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=polyglucosanes (neuropathie à ) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 quadriplégie spastique, rétinite pigmentaire et retard mental --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=quadriplégie spastique, rétinite pigmentaire et retard mental | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 rétinite pigmentaire (classification de Fishman) --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=rétinite pigmentaire (classification de Fishman) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 troubles congénitaux --- r_associated #0: 10 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=troubles congénitaux | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=10 Lester (signe de) --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Lester (signe de) | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 Létal --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Létal | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 Maladie opportuniste --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Maladie opportuniste | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 Rétinite pigmentaire --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=Rétinite pigmentaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 disomie uniparentale --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=disomie uniparentale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydramnios aigu --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydramnios aigu | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydramnios chronique --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydramnios chronique | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydranencéphalie --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydranencéphalie | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrargirose --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrargirose | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrargyrie --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrargyrie | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrargyrisme --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrargyrisme | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydratase --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydratase | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydratation cutanée --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydratation cutanée | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrate de carbone --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrate de carbone | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrencéphalie --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrencéphalie | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrencéphalocèle --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrencéphalocèle | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrine --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydroa --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydroa | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydroa aestivalis --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydroa aestivalis | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydroa vacciniforme de Bazin --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydroa vacciniforme de Bazin | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydroadénome --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydroadénome | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrocalice --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrocalice | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrocarboné --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrocarboné | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 hydrocarbure --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=hydrocarbure | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malf ormation dysraphique --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malf ormation dysraphique | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malformation kystique adénomatoïde du poumon --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation kystique adénomatoïde du poumon | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malformation luxante de la hanche --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation luxante de la hanche | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malformation mamelonnaire --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation mamelonnaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malformation mammaire --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation mammaire | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malformation ombilicale --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation ombilicale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malformation utérine --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation utérine | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malformation vaginale --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation vaginale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malformation vasculaire cérébrale du nourrisson --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformation vasculaire cérébrale du nourrisson | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 malformations de la charnière occipitocervicale --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=malformations de la charnière occipitocervicale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5 syndrome de prédisposition tumorale --- r_associated #0: 5 --> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=syndrome de prédisposition tumorale | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=5